Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37125235C>ACA3237622CPLANE1n.1966G>T
c.8958+9G>T (n.8958+9G>T)
n.819+9G>T
c.8796+9G>T (n.8796+9G>T)
c.5970+9G>T (n.5970+9G>T)
n.4139+9G>T
n.342-3451G>T
c.5994+9G>T (n.5994+9G>T)
c.8955+9G>T (n.8955+9G>T)
c.8847+9G>T (n.8847+9G>T)
c.8829+9G>T (n.8829+9G>T)
c.5601+9G>T (n.5601+9G>T)
c.3531+9G>T (n.3531+9G>T)
c.8904+9G>T (n.8904+9G>T)
c.8850+9G>T (n.8850+9G>T)
c.8640+9G>T (n.8640+9G>T)
c.8286+9G>T (n.8286+9G>T)
c.6183+9G>T (n.6183+9G>T)
n.9133+9G>T
c.8769+9G>T (n.8769+9G>T)
c.7965+9G>T (n.7965+9G>T)
c.7770+9G>T (n.7770+9G>T)
n.9182+9G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125235C=CA1539667563CPLANE1n.1966G=
c.8958+9G= (n.8958+9G=)
n.819+9G=
c.8796+9G= (n.8796+9G=)
c.5970+9G= (n.5970+9G=)
n.4139+9G=
n.342-3451G=
c.5994+9G= (n.5994+9G=)
c.8955+9G= (n.8955+9G=)
c.8847+9G= (n.8847+9G=)
c.8829+9G= (n.8829+9G=)
c.5601+9G= (n.5601+9G=)
c.3531+9G= (n.3531+9G=)
c.8904+9G= (n.8904+9G=)
c.8850+9G= (n.8850+9G=)
c.8640+9G= (n.8640+9G=)
c.8286+9G= (n.8286+9G=)
c.6183+9G= (n.6183+9G=)
n.9133+9G=
c.8769+9G= (n.8769+9G=)
c.7965+9G= (n.7965+9G=)
c.7770+9G= (n.7770+9G=)
n.9182+9G=
5g.37125237G>CCA2673580095CPLANE1n.1964C>G
c.8958+7C>G (n.8958+7C>G)
n.819+7C>G
c.8796+7C>G (n.8796+7C>G)
c.5970+7C>G (n.5970+7C>G)
n.4139+7C>G
n.342-3453C>G
c.5994+7C>G (n.5994+7C>G)
c.8955+7C>G (n.8955+7C>G)
c.8847+7C>G (n.8847+7C>G)
c.8829+7C>G (n.8829+7C>G)
c.5601+7C>G (n.5601+7C>G)
c.3531+7C>G (n.3531+7C>G)
c.8904+7C>G (n.8904+7C>G)
c.8850+7C>G (n.8850+7C>G)
c.8640+7C>G (n.8640+7C>G)
c.8286+7C>G (n.8286+7C>G)
c.6183+7C>G (n.6183+7C>G)
n.9133+7C>G
c.8769+7C>G (n.8769+7C>G)
c.7965+7C>G (n.7965+7C>G)
c.7770+7C>G (n.7770+7C>G)
n.9182+7C>G
 gnomAD v4
5g.37125238A>GCA2708563489CPLANE1n.1963T>C
c.8958+6T>C (n.8958+6T>C)
n.819+6T>C
c.8796+6T>C (n.8796+6T>C)
c.5970+6T>C (n.5970+6T>C)
n.4139+6T>C
n.342-3454T>C
c.5994+6T>C (n.5994+6T>C)
c.8955+6T>C (n.8955+6T>C)
c.8847+6T>C (n.8847+6T>C)
c.8829+6T>C (n.8829+6T>C)
c.5601+6T>C (n.5601+6T>C)
c.3531+6T>C (n.3531+6T>C)
c.8904+6T>C (n.8904+6T>C)
c.8850+6T>C (n.8850+6T>C)
c.8640+6T>C (n.8640+6T>C)
c.8286+6T>C (n.8286+6T>C)
c.6183+6T>C (n.6183+6T>C)
n.9133+6T>C
c.8769+6T>C (n.8769+6T>C)
c.7965+6T>C (n.7965+6T>C)
c.7770+6T>C (n.7770+6T>C)
n.9182+6T>C
 dbSNP
5g.37125240T>CCA2578290371CPLANE1n.1961A>G
c.8958+4A>G (n.8958+4A>G)
n.819+4A>G
c.8796+4A>G (n.8796+4A>G)
c.5970+4A>G (n.5970+4A>G)
n.4139+4A>G
n.342-3456A>G
c.5994+4A>G (n.5994+4A>G)
c.8955+4A>G (n.8955+4A>G)
c.8847+4A>G (n.8847+4A>G)
c.8829+4A>G (n.8829+4A>G)
c.5601+4A>G (n.5601+4A>G)
c.3531+4A>G (n.3531+4A>G)
c.8904+4A>G (n.8904+4A>G)
c.8850+4A>G (n.8850+4A>G)
c.8640+4A>G (n.8640+4A>G)
c.8286+4A>G (n.8286+4A>G)
c.6183+4A>G (n.6183+4A>G)
n.9133+4A>G
c.8769+4A>G (n.8769+4A>G)
c.7965+4A>G (n.7965+4A>G)
c.7770+4A>G (n.7770+4A>G)
n.9182+4A>G
 ClinVar gnomAD v4
5g.37125240T>GCA245783CPLANE1n.1961A>C
c.8958+4A>C (n.8958+4A>C)
n.819+4A>C
c.8796+4A>C (n.8796+4A>C)
c.5970+4A>C (n.5970+4A>C)
n.4139+4A>C
n.342-3456A>C
c.5994+4A>C (n.5994+4A>C)
c.8955+4A>C (n.8955+4A>C)
c.8847+4A>C (n.8847+4A>C)
c.8829+4A>C (n.8829+4A>C)
c.5601+4A>C (n.5601+4A>C)
c.3531+4A>C (n.3531+4A>C)
c.8904+4A>C (n.8904+4A>C)
c.8850+4A>C (n.8850+4A>C)
c.8640+4A>C (n.8640+4A>C)
c.8286+4A>C (n.8286+4A>C)
c.6183+4A>C (n.6183+4A>C)
n.9133+4A>C
c.8769+4A>C (n.8769+4A>C)
c.7965+4A>C (n.7965+4A>C)
c.7770+4A>C (n.7770+4A>C)
n.9182+4A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125240T=CA1539667567CPLANE1n.1961A=
c.8958+4A= (n.8958+4A=)
n.819+4A=
c.8796+4A= (n.8796+4A=)
c.5970+4A= (n.5970+4A=)
n.4139+4A=
n.342-3456A=
c.5994+4A= (n.5994+4A=)
c.8955+4A= (n.8955+4A=)
c.8847+4A= (n.8847+4A=)
c.8829+4A= (n.8829+4A=)
c.5601+4A= (n.5601+4A=)
c.3531+4A= (n.3531+4A=)
c.8904+4A= (n.8904+4A=)
c.8850+4A= (n.8850+4A=)
c.8640+4A= (n.8640+4A=)
c.8286+4A= (n.8286+4A=)
c.6183+4A= (n.6183+4A=)
n.9133+4A=
c.8769+4A= (n.8769+4A=)
c.7965+4A= (n.7965+4A=)
c.7770+4A= (n.7770+4A=)
n.9182+4A=
5g.37125241T>GCA3237623CPLANE1n.1960A>C
c.8958+3A>C (n.8958+3A>C)
n.819+3A>C
c.8796+3A>C (n.8796+3A>C)
c.5970+3A>C (n.5970+3A>C)
n.4139+3A>C
n.342-3457A>C
c.5994+3A>C (n.5994+3A>C)
c.8955+3A>C (n.8955+3A>C)
c.8847+3A>C (n.8847+3A>C)
c.8829+3A>C (n.8829+3A>C)
c.5601+3A>C (n.5601+3A>C)
c.3531+3A>C (n.3531+3A>C)
c.8904+3A>C (n.8904+3A>C)
c.8850+3A>C (n.8850+3A>C)
c.8640+3A>C (n.8640+3A>C)
c.8286+3A>C (n.8286+3A>C)
c.6183+3A>C (n.6183+3A>C)
n.9133+3A>C
c.8769+3A>C (n.8769+3A>C)
c.7965+3A>C (n.7965+3A>C)
c.7770+3A>C (n.7770+3A>C)
n.9182+3A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125241T=CA1539667568CPLANE1n.1960A=
c.8958+3A= (n.8958+3A=)
n.819+3A=
c.8796+3A= (n.8796+3A=)
c.5970+3A= (n.5970+3A=)
n.4139+3A=
n.342-3457A=
c.5994+3A= (n.5994+3A=)
c.8955+3A= (n.8955+3A=)
c.8847+3A= (n.8847+3A=)
c.8829+3A= (n.8829+3A=)
c.5601+3A= (n.5601+3A=)
c.3531+3A= (n.3531+3A=)
c.8904+3A= (n.8904+3A=)
c.8850+3A= (n.8850+3A=)
c.8640+3A= (n.8640+3A=)
c.8286+3A= (n.8286+3A=)
c.6183+3A= (n.6183+3A=)
n.9133+3A=
c.8769+3A= (n.8769+3A=)
c.7965+3A= (n.7965+3A=)
c.7770+3A= (n.7770+3A=)
n.9182+3A=
5g.37125242A>CCA359498254CPLANE1n.1959T>G
c.8958+2T>G (n.8958+2T>G)
n.819+2T>G
c.8796+2T>G (n.8796+2T>G)
c.5970+2T>G (n.5970+2T>G)
n.4139+2T>G
n.342-3458T>G
c.5994+2T>G (n.5994+2T>G)
c.8955+2T>G (n.8955+2T>G)
c.8847+2T>G (n.8847+2T>G)
c.8829+2T>G (n.8829+2T>G)
c.5601+2T>G (n.5601+2T>G)
c.3531+2T>G (n.3531+2T>G)
c.8904+2T>G (n.8904+2T>G)
c.8850+2T>G (n.8850+2T>G)
c.8640+2T>G (n.8640+2T>G)
c.8286+2T>G (n.8286+2T>G)
c.6183+2T>G (n.6183+2T>G)
n.9133+2T>G
c.8769+2T>G (n.8769+2T>G)
c.7965+2T>G (n.7965+2T>G)
c.7770+2T>G (n.7770+2T>G)
n.9182+2T>G
5g.37125242A>GCA359498259CPLANE1n.1959T>C
c.8958+2T>C (n.8958+2T>C)
n.819+2T>C
c.8796+2T>C (n.8796+2T>C)
c.5970+2T>C (n.5970+2T>C)
n.4139+2T>C
n.342-3458T>C
c.5994+2T>C (n.5994+2T>C)
c.8955+2T>C (n.8955+2T>C)
c.8847+2T>C (n.8847+2T>C)
c.8829+2T>C (n.8829+2T>C)
c.5601+2T>C (n.5601+2T>C)
c.3531+2T>C (n.3531+2T>C)
c.8904+2T>C (n.8904+2T>C)
c.8850+2T>C (n.8850+2T>C)
c.8640+2T>C (n.8640+2T>C)
c.8286+2T>C (n.8286+2T>C)
c.6183+2T>C (n.6183+2T>C)
n.9133+2T>C
c.8769+2T>C (n.8769+2T>C)
c.7965+2T>C (n.7965+2T>C)
c.7770+2T>C (n.7770+2T>C)
n.9182+2T>C
5g.37125242A>TCA359498263CPLANE1n.1959T>A
c.8958+2T>A (n.8958+2T>A)
n.819+2T>A
c.8796+2T>A (n.8796+2T>A)
c.5970+2T>A (n.5970+2T>A)
n.4139+2T>A
n.342-3458T>A
c.5994+2T>A (n.5994+2T>A)
c.8955+2T>A (n.8955+2T>A)
c.8847+2T>A (n.8847+2T>A)
c.8829+2T>A (n.8829+2T>A)
c.5601+2T>A (n.5601+2T>A)
c.3531+2T>A (n.3531+2T>A)
c.8904+2T>A (n.8904+2T>A)
c.8850+2T>A (n.8850+2T>A)
c.8640+2T>A (n.8640+2T>A)
c.8286+2T>A (n.8286+2T>A)
c.6183+2T>A (n.6183+2T>A)
n.9133+2T>A
c.8769+2T>A (n.8769+2T>A)
c.7965+2T>A (n.7965+2T>A)
c.7770+2T>A (n.7770+2T>A)
n.9182+2T>A
5g.37125242dupCA2673580096CPLANE1n.1959dup
c.8958+2dup (n.8958+2dup)
n.819+2dup
c.8796+2dup (n.8796+2dup)
c.5970+2dup (n.5970+2dup)
n.4139+2dup
n.342-3458dup
c.5994+2dup (n.5994+2dup)
c.8955+2dup (n.8955+2dup)
c.8847+2dup (n.8847+2dup)
c.8829+2dup (n.8829+2dup)
c.5601+2dup (n.5601+2dup)
c.3531+2dup (n.3531+2dup)
c.8904+2dup (n.8904+2dup)
c.8850+2dup (n.8850+2dup)
c.8640+2dup (n.8640+2dup)
c.8286+2dup (n.8286+2dup)
c.6183+2dup (n.6183+2dup)
n.9133+2dup
c.8769+2dup (n.8769+2dup)
c.7965+2dup (n.7965+2dup)
c.7770+2dup (n.7770+2dup)
n.9182+2dup
 gnomAD v4
5g.37125243C>ACA359498271CPLANE1n.1958G>T
c.8958+1G>T (n.8958+1G>T)
n.819+1G>T
c.8796+1G>T (n.8796+1G>T)
c.5970+1G>T (n.5970+1G>T)
n.4139+1G>T
n.342-3459G>T
c.5994+1G>T (n.5994+1G>T)
c.8955+1G>T (n.8955+1G>T)
c.8847+1G>T (n.8847+1G>T)
c.8829+1G>T (n.8829+1G>T)
c.5601+1G>T (n.5601+1G>T)
c.3531+1G>T (n.3531+1G>T)
c.8904+1G>T (n.8904+1G>T)
c.8850+1G>T (n.8850+1G>T)
c.8640+1G>T (n.8640+1G>T)
c.8286+1G>T (n.8286+1G>T)
c.6183+1G>T (n.6183+1G>T)
n.9133+1G>T
c.8769+1G>T (n.8769+1G>T)
c.7965+1G>T (n.7965+1G>T)
c.7770+1G>T (n.7770+1G>T)
n.9182+1G>T
5g.37125243C>GCA359498273CPLANE1n.1958G>C
c.8958+1G>C (n.8958+1G>C)
n.819+1G>C
c.8796+1G>C (n.8796+1G>C)
c.5970+1G>C (n.5970+1G>C)
n.4139+1G>C
n.342-3459G>C
c.5994+1G>C (n.5994+1G>C)
c.8955+1G>C (n.8955+1G>C)
c.8847+1G>C (n.8847+1G>C)
c.8829+1G>C (n.8829+1G>C)
c.5601+1G>C (n.5601+1G>C)
c.3531+1G>C (n.3531+1G>C)
c.8904+1G>C (n.8904+1G>C)
c.8850+1G>C (n.8850+1G>C)
c.8640+1G>C (n.8640+1G>C)
c.8286+1G>C (n.8286+1G>C)
c.6183+1G>C (n.6183+1G>C)
n.9133+1G>C
c.8769+1G>C (n.8769+1G>C)
c.7965+1G>C (n.7965+1G>C)
c.7770+1G>C (n.7770+1G>C)
n.9182+1G>C
5g.37125243C>TCA359498279CPLANE1n.1958G>A
c.8958+1G>A (n.8958+1G>A)
n.819+1G>A
c.8796+1G>A (n.8796+1G>A)
c.5970+1G>A (n.5970+1G>A)
n.4139+1G>A
n.342-3459G>A
c.5994+1G>A (n.5994+1G>A)
c.8955+1G>A (n.8955+1G>A)
c.8847+1G>A (n.8847+1G>A)
c.8829+1G>A (n.8829+1G>A)
c.5601+1G>A (n.5601+1G>A)
c.3531+1G>A (n.3531+1G>A)
c.8904+1G>A (n.8904+1G>A)
c.8850+1G>A (n.8850+1G>A)
c.8640+1G>A (n.8640+1G>A)
c.8286+1G>A (n.8286+1G>A)
c.6183+1G>A (n.6183+1G>A)
n.9133+1G>A
c.8769+1G>A (n.8769+1G>A)
c.7965+1G>A (n.7965+1G>A)
c.7770+1G>A (n.7770+1G>A)
n.9182+1G>A
5g.37125244T>ACA443921975CPLANE1n.1957A>T
c.8958A>T (p.Pro2986=)
n.819A>T
c.8796A>T (p.Pro2932=)
c.5970A>T (n.5970A>T)
n.4139A>T
n.342-3460A>T
c.5994A>T (p.Pro1998=)
c.8955A>T (p.Pro2985=)
c.8847A>T (p.Pro2949=)
c.8829A>T (p.Pro2943=)
c.5601A>T (p.Pro1867=)
c.3531A>T (p.Pro1177=)
c.8904A>T (p.Pro2968=)
c.8850A>T (p.Pro2950=)
c.8640A>T (p.Pro2880=)
c.8286A>T (p.Pro2762=)
c.6183A>T (p.Pro2061=)
n.9133A>T
c.8769A>T (p.Pro2923=)
c.7965A>T (p.Pro2655=)
c.7770A>T (p.Pro2590=)
n.9182A>T
5g.37125244T>CCA3237624CPLANE1n.1957A>G
c.8958A>G (p.Pro2986=)
n.819A>G
c.8796A>G (p.Pro2932=)
c.5970A>G (n.5970A>G)
n.4139A>G
n.342-3460A>G
c.5994A>G (p.Pro1998=)
c.8955A>G (p.Pro2985=)
c.8847A>G (p.Pro2949=)
c.8829A>G (p.Pro2943=)
c.5601A>G (p.Pro1867=)
c.3531A>G (p.Pro1177=)
c.8904A>G (p.Pro2968=)
c.8850A>G (p.Pro2950=)
c.8640A>G (p.Pro2880=)
c.8286A>G (p.Pro2762=)
c.6183A>G (p.Pro2061=)
n.9133A>G
c.8769A>G (p.Pro2923=)
c.7965A>G (p.Pro2655=)
c.7770A>G (p.Pro2590=)
n.9182A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125244T>GCA443921976CPLANE1n.1957A>C
c.8958A>C (p.Pro2986=)
n.819A>C
c.8796A>C (p.Pro2932=)
c.5970A>C (n.5970A>C)
n.4139A>C
n.342-3460A>C
c.5994A>C (p.Pro1998=)
c.8955A>C (p.Pro2985=)
c.8847A>C (p.Pro2949=)
c.8829A>C (p.Pro2943=)
c.5601A>C (p.Pro1867=)
c.3531A>C (p.Pro1177=)
c.8904A>C (p.Pro2968=)
c.8850A>C (p.Pro2950=)
c.8640A>C (p.Pro2880=)
c.8286A>C (p.Pro2762=)
c.6183A>C (p.Pro2061=)
n.9133A>C
c.8769A>C (p.Pro2923=)
c.7965A>C (p.Pro2655=)
c.7770A>C (p.Pro2590=)
n.9182A>C
5g.37125244T=CA1539667570CPLANE1n.1957A=
c.8958A= (p.Pro2986=)
n.819A=
c.8796A= (p.Pro2932=)
c.5970A= (n.5970A=)
n.4139A=
n.342-3460A=
c.5994A= (p.Pro1998=)
c.8955A= (p.Pro2985=)
c.8847A= (p.Pro2949=)
c.8829A= (p.Pro2943=)
c.5601A= (p.Pro1867=)
c.3531A= (p.Pro1177=)
c.8904A= (p.Pro2968=)
c.8850A= (p.Pro2950=)
c.8640A= (p.Pro2880=)
c.8286A= (p.Pro2762=)
c.6183A= (p.Pro2061=)
n.9133A=
c.8769A= (p.Pro2923=)
c.7965A= (p.Pro2655=)
c.7770A= (p.Pro2590=)
n.9182A=
5g.37125245G>ACA3237625CPLANE1n.1956C>T
c.8957C>T (p.Pro2986Leu)
n.818C>T
c.8795C>T (p.Pro2932Leu)
c.5969C>T (n.5969C>T)
n.4138C>T
n.342-3461C>T
c.5993C>T (p.Pro1998Leu)
c.8954C>T (p.Pro2985Leu)
c.8846C>T (p.Pro2949Leu)
c.8828C>T (p.Pro2943Leu)
c.5600C>T (p.Pro1867Leu)
c.3530C>T (p.Pro1177Leu)
c.8903C>T (p.Pro2968Leu)
c.8849C>T (p.Pro2950Leu)
c.8639C>T (p.Pro2880Leu)
c.8285C>T (p.Pro2762Leu)
c.6182C>T (p.Pro2061Leu)
n.9132C>T
c.8768C>T (p.Pro2923Leu)
c.7964C>T (p.Pro2655Leu)
c.7769C>T (p.Pro2590Leu)
n.9181C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125245G>CCA359498289CPLANE1n.1956C>G
c.8957C>G (p.Pro2986Arg)
n.818C>G
c.8795C>G (p.Pro2932Arg)
c.5969C>G (n.5969C>G)
n.4138C>G
n.342-3461C>G
c.5993C>G (p.Pro1998Arg)
c.8954C>G (p.Pro2985Arg)
c.8846C>G (p.Pro2949Arg)
c.8828C>G (p.Pro2943Arg)
c.5600C>G (p.Pro1867Arg)
c.3530C>G (p.Pro1177Arg)
c.8903C>G (p.Pro2968Arg)
c.8849C>G (p.Pro2950Arg)
c.8639C>G (p.Pro2880Arg)
c.8285C>G (p.Pro2762Arg)
c.6182C>G (p.Pro2061Arg)
n.9132C>G
c.8768C>G (p.Pro2923Arg)
c.7964C>G (p.Pro2655Arg)
c.7769C>G (p.Pro2590Arg)
n.9181C>G
5g.37125245G=CA1539667572CPLANE1n.1956C=
c.8957C= (p.Pro2986=)
n.818C=
c.8795C= (p.Pro2932=)
c.5969C= (n.5969C=)
n.4138C=
n.342-3461C=
c.5993C= (p.Pro1998=)
c.8954C= (p.Pro2985=)
c.8846C= (p.Pro2949=)
c.8828C= (p.Pro2943=)
c.5600C= (p.Pro1867=)
c.3530C= (p.Pro1177=)
c.8903C= (p.Pro2968=)
c.8849C= (p.Pro2950=)
c.8639C= (p.Pro2880=)
c.8285C= (p.Pro2762=)
c.6182C= (p.Pro2061=)
n.9132C=
c.8768C= (p.Pro2923=)
c.7964C= (p.Pro2655=)
c.7769C= (p.Pro2590=)
n.9181C=
5g.37125245G>TCA359498293CPLANE1n.1956C>A
c.8957C>A (p.Pro2986Gln)
n.818C>A
c.8795C>A (p.Pro2932Gln)
c.5969C>A (n.5969C>A)
n.4138C>A
n.342-3461C>A
c.5993C>A (p.Pro1998Gln)
c.8954C>A (p.Pro2985Gln)
c.8846C>A (p.Pro2949Gln)
c.8828C>A (p.Pro2943Gln)
c.5600C>A (p.Pro1867Gln)
c.3530C>A (p.Pro1177Gln)
c.8903C>A (p.Pro2968Gln)
c.8849C>A (p.Pro2950Gln)
c.8639C>A (p.Pro2880Gln)
c.8285C>A (p.Pro2762Gln)
c.6182C>A (p.Pro2061Gln)
n.9132C>A
c.8768C>A (p.Pro2923Gln)
c.7964C>A (p.Pro2655Gln)
c.7769C>A (p.Pro2590Gln)
n.9181C>A
5g.37125246G>ACA359498302CPLANE1n.1955C>T
c.8956C>T (p.Pro2986Ser)
n.817C>T
c.8794C>T (p.Pro2932Ser)
c.5968C>T (n.5968C>T)
n.4137C>T
n.342-3462C>T
c.5992C>T (p.Pro1998Ser)
c.8953C>T (p.Pro2985Ser)
c.8845C>T (p.Pro2949Ser)
c.8827C>T (p.Pro2943Ser)
c.5599C>T (p.Pro1867Ser)
c.3529C>T (p.Pro1177Ser)
c.8902C>T (p.Pro2968Ser)
c.8848C>T (p.Pro2950Ser)
c.8638C>T (p.Pro2880Ser)
c.8284C>T (p.Pro2762Ser)
c.6181C>T (p.Pro2061Ser)
n.9131C>T
c.8767C>T (p.Pro2923Ser)
c.7963C>T (p.Pro2655Ser)
c.7768C>T (p.Pro2590Ser)
n.9180C>T
5g.37125246G>CCA359498299CPLANE1n.1955C>G
c.8956C>G (p.Pro2986Ala)
n.817C>G
c.8794C>G (p.Pro2932Ala)
c.5968C>G (n.5968C>G)
n.4137C>G
n.342-3462C>G
c.5992C>G (p.Pro1998Ala)
c.8953C>G (p.Pro2985Ala)
c.8845C>G (p.Pro2949Ala)
c.8827C>G (p.Pro2943Ala)
c.5599C>G (p.Pro1867Ala)
c.3529C>G (p.Pro1177Ala)
c.8902C>G (p.Pro2968Ala)
c.8848C>G (p.Pro2950Ala)
c.8638C>G (p.Pro2880Ala)
c.8284C>G (p.Pro2762Ala)
c.6181C>G (p.Pro2061Ala)
n.9131C>G
c.8767C>G (p.Pro2923Ala)
c.7963C>G (p.Pro2655Ala)
c.7768C>G (p.Pro2590Ala)
n.9180C>G
5g.37125246G>TCA359498295CPLANE1n.1955C>A
c.8956C>A (p.Pro2986Thr)
n.817C>A
c.8794C>A (p.Pro2932Thr)
c.5968C>A (n.5968C>A)
n.4137C>A
n.342-3462C>A
c.5992C>A (p.Pro1998Thr)
c.8953C>A (p.Pro2985Thr)
c.8845C>A (p.Pro2949Thr)
c.8827C>A (p.Pro2943Thr)
c.5599C>A (p.Pro1867Thr)
c.3529C>A (p.Pro1177Thr)
c.8902C>A (p.Pro2968Thr)
c.8848C>A (p.Pro2950Thr)
c.8638C>A (p.Pro2880Thr)
c.8284C>A (p.Pro2762Thr)
c.6181C>A (p.Pro2061Thr)
n.9131C>A
c.8767C>A (p.Pro2923Thr)
c.7963C>A (p.Pro2655Thr)
c.7768C>A (p.Pro2590Thr)
n.9180C>A
5g.37125247A>CCA359498309CPLANE1n.1954T>G
c.8955T>G (p.Asn2985Lys)
n.816T>G
c.8793T>G (p.Asn2931Lys)
c.5967T>G (n.5967T>G)
n.4136T>G
n.342-3463T>G
c.5991T>G (p.Asn1997Lys)
c.8952T>G (p.Asn2984Lys)
c.8844T>G (p.Asn2948Lys)
c.8826T>G (p.Asn2942Lys)
c.5598T>G (p.Asn1866Lys)
c.3528T>G (p.Asn1176Lys)
c.8901T>G (p.Asn2967Lys)
c.8847T>G (p.Asn2949Lys)
c.8637T>G (p.Asn2879Lys)
c.8283T>G (p.Asn2761Lys)
c.6180T>G (p.Asn2060Lys)
n.9130T>G
c.8766T>G (p.Asn2922Lys)
c.7962T>G (p.Asn2654Lys)
c.7767T>G (p.Asn2589Lys)
n.9179T>G
5g.37125247A>GCA443921977CPLANE1n.1954T>C
c.8955T>C (p.Asn2985=)
n.816T>C
c.8793T>C (p.Asn2931=)
c.5967T>C (n.5967T>C)
n.4136T>C
n.342-3463T>C
c.5991T>C (p.Asn1997=)
c.8952T>C (p.Asn2984=)
c.8844T>C (p.Asn2948=)
c.8826T>C (p.Asn2942=)
c.5598T>C (p.Asn1866=)
c.3528T>C (p.Asn1176=)
c.8901T>C (p.Asn2967=)
c.8847T>C (p.Asn2949=)
c.8637T>C (p.Asn2879=)
c.8283T>C (p.Asn2761=)
c.6180T>C (p.Asn2060=)
n.9130T>C
c.8766T>C (p.Asn2922=)
c.7962T>C (p.Asn2654=)
c.7767T>C (p.Asn2589=)
n.9179T>C
5g.37125247A>TCA359498314CPLANE1n.1954T>A
c.8955T>A (p.Asn2985Lys)
n.816T>A
c.8793T>A (p.Asn2931Lys)
c.5967T>A (n.5967T>A)
n.4136T>A
n.342-3463T>A
c.5991T>A (p.Asn1997Lys)
c.8952T>A (p.Asn2984Lys)
c.8844T>A (p.Asn2948Lys)
c.8826T>A (p.Asn2942Lys)
c.5598T>A (p.Asn1866Lys)
c.3528T>A (p.Asn1176Lys)
c.8901T>A (p.Asn2967Lys)
c.8847T>A (p.Asn2949Lys)
c.8637T>A (p.Asn2879Lys)
c.8283T>A (p.Asn2761Lys)
c.6180T>A (p.Asn2060Lys)
n.9130T>A
c.8766T>A (p.Asn2922Lys)
c.7962T>A (p.Asn2654Lys)
c.7767T>A (p.Asn2589Lys)
n.9179T>A
5g.37125248T>ACA359498319CPLANE1n.1953A>T
c.8954A>T (p.Asn2985Ile)
n.815A>T
c.8792A>T (p.Asn2931Ile)
c.5966A>T (n.5966A>T)
n.4135A>T
n.342-3464A>T
c.5990A>T (p.Asn1997Ile)
c.8951A>T (p.Asn2984Ile)
c.8843A>T (p.Asn2948Ile)
c.8825A>T (p.Asn2942Ile)
c.5597A>T (p.Asn1866Ile)
c.3527A>T (p.Asn1176Ile)
c.8900A>T (p.Asn2967Ile)
c.8846A>T (p.Asn2949Ile)
c.8636A>T (p.Asn2879Ile)
c.8282A>T (p.Asn2761Ile)
c.6179A>T (p.Asn2060Ile)
n.9129A>T
c.8765A>T (p.Asn2922Ile)
c.7961A>T (p.Asn2654Ile)
c.7766A>T (p.Asn2589Ile)
n.9178A>T
5g.37125248T>CCA3237626CPLANE1n.1953A>G
c.8954A>G (p.Asn2985Ser)
n.815A>G
c.8792A>G (p.Asn2931Ser)
c.5966A>G (n.5966A>G)
n.4135A>G
n.342-3464A>G
c.5990A>G (p.Asn1997Ser)
c.8951A>G (p.Asn2984Ser)
c.8843A>G (p.Asn2948Ser)
c.8825A>G (p.Asn2942Ser)
c.5597A>G (p.Asn1866Ser)
c.3527A>G (p.Asn1176Ser)
c.8900A>G (p.Asn2967Ser)
c.8846A>G (p.Asn2949Ser)
c.8636A>G (p.Asn2879Ser)
c.8282A>G (p.Asn2761Ser)
c.6179A>G (p.Asn2060Ser)
n.9129A>G
c.8765A>G (p.Asn2922Ser)
c.7961A>G (p.Asn2654Ser)
c.7766A>G (p.Asn2589Ser)
n.9178A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125248T>GCA359498320CPLANE1n.1953A>C
c.8954A>C (p.Asn2985Thr)
n.815A>C
c.8792A>C (p.Asn2931Thr)
c.5966A>C (n.5966A>C)
n.4135A>C
n.342-3464A>C
c.5990A>C (p.Asn1997Thr)
c.8951A>C (p.Asn2984Thr)
c.8843A>C (p.Asn2948Thr)
c.8825A>C (p.Asn2942Thr)
c.5597A>C (p.Asn1866Thr)
c.3527A>C (p.Asn1176Thr)
c.8900A>C (p.Asn2967Thr)
c.8846A>C (p.Asn2949Thr)
c.8636A>C (p.Asn2879Thr)
c.8282A>C (p.Asn2761Thr)
c.6179A>C (p.Asn2060Thr)
n.9129A>C
c.8765A>C (p.Asn2922Thr)
c.7961A>C (p.Asn2654Thr)
c.7766A>C (p.Asn2589Thr)
n.9178A>C
5g.37125248T=CA1539667574CPLANE1n.1953A=
c.8954A= (p.Asn2985=)
n.815A=
c.8792A= (p.Asn2931=)
c.5966A= (n.5966A=)
n.4135A=
n.342-3464A=
c.5990A= (p.Asn1997=)
c.8951A= (p.Asn2984=)
c.8843A= (p.Asn2948=)
c.8825A= (p.Asn2942=)
c.5597A= (p.Asn1866=)
c.3527A= (p.Asn1176=)
c.8900A= (p.Asn2967=)
c.8846A= (p.Asn2949=)
c.8636A= (p.Asn2879=)
c.8282A= (p.Asn2761=)
c.6179A= (p.Asn2060=)
n.9129A=
c.8765A= (p.Asn2922=)
c.7961A= (p.Asn2654=)
c.7766A= (p.Asn2589=)
n.9178A=
5g.37125249T>ACA359498321CPLANE1n.1952A>T
c.8953A>T (p.Asn2985Tyr)
n.814A>T
c.8791A>T (p.Asn2931Tyr)
c.5965A>T (n.5965A>T)
n.4134A>T
n.342-3465A>T
c.5989A>T (p.Asn1997Tyr)
c.8950A>T (p.Asn2984Tyr)
c.8842A>T (p.Asn2948Tyr)
c.8824A>T (p.Asn2942Tyr)
c.5596A>T (p.Asn1866Tyr)
c.3526A>T (p.Asn1176Tyr)
c.8899A>T (p.Asn2967Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8635A>T (p.Asn2879Tyr)
c.8281A>T (p.Asn2761Tyr)
c.6178A>T (p.Asn2060Tyr)
n.9128A>T
c.8764A>T (p.Asn2922Tyr)
c.7960A>T (p.Asn2654Tyr)
c.7765A>T (p.Asn2589Tyr)
n.9177A>T
5g.37125249T>CCA359498323CPLANE1n.1952A>G
c.8953A>G (p.Asn2985Asp)
n.814A>G
c.8791A>G (p.Asn2931Asp)
c.5965A>G (n.5965A>G)
n.4134A>G
n.342-3465A>G
c.5989A>G (p.Asn1997Asp)
c.8950A>G (p.Asn2984Asp)
c.8842A>G (p.Asn2948Asp)
c.8824A>G (p.Asn2942Asp)
c.5596A>G (p.Asn1866Asp)
c.3526A>G (p.Asn1176Asp)
c.8899A>G (p.Asn2967Asp)
c.8845A>G (p.Asn2949Asp)
c.8635A>G (p.Asn2879Asp)
c.8281A>G (p.Asn2761Asp)
c.6178A>G (p.Asn2060Asp)
n.9128A>G
c.8764A>G (p.Asn2922Asp)
c.7960A>G (p.Asn2654Asp)
c.7765A>G (p.Asn2589Asp)
n.9177A>G
 dbSNP gnomAD v2 gnomAD v4
5g.37125249T>GCA359498325CPLANE1n.1952A>C
c.8953A>C (p.Asn2985His)
n.814A>C
c.8791A>C (p.Asn2931His)
c.5965A>C (n.5965A>C)
n.4134A>C
n.342-3465A>C
c.5989A>C (p.Asn1997His)
c.8950A>C (p.Asn2984His)
c.8842A>C (p.Asn2948His)
c.8824A>C (p.Asn2942His)
c.5596A>C (p.Asn1866His)
c.3526A>C (p.Asn1176His)
c.8899A>C (p.Asn2967His)
c.8845A>C (p.Asn2949His)
c.8635A>C (p.Asn2879His)
c.8281A>C (p.Asn2761His)
c.6178A>C (p.Asn2060His)
n.9128A>C
c.8764A>C (p.Asn2922His)
c.7960A>C (p.Asn2654His)
c.7765A>C (p.Asn2589His)
n.9177A>C
5g.37125249T=CA1539667576CPLANE1n.1952A=
c.8953A= (p.Asn2985=)
n.814A=
c.8791A= (p.Asn2931=)
c.5965A= (n.5965A=)
n.4134A=
n.342-3465A=
c.5989A= (p.Asn1997=)
c.8950A= (p.Asn2984=)
c.8842A= (p.Asn2948=)
c.8824A= (p.Asn2942=)
c.5596A= (p.Asn1866=)
c.3526A= (p.Asn1176=)
c.8899A= (p.Asn2967=)
c.8845A= (p.Asn2949=)
c.8635A= (p.Asn2879=)
c.8281A= (p.Asn2761=)
c.6178A= (p.Asn2060=)
n.9128A=
c.8764A= (p.Asn2922=)
c.7960A= (p.Asn2654=)
c.7765A= (p.Asn2589=)
n.9177A=
5g.37125250G>ACA3237627CPLANE1n.1951C>T
c.8952C>T (p.Ser2984=)
n.813C>T
c.8790C>T (p.Ser2930=)
c.5964C>T (n.5964C>T)
n.4133C>T
n.342-3466C>T
c.5988C>T (p.Ser1996=)
c.8949C>T (p.Ser2983=)
c.8841C>T (p.Ser2947=)
c.8823C>T (p.Ser2941=)
c.5595C>T (p.Ser1865=)
c.3525C>T (p.Ser1175=)
c.8898C>T (p.Ser2966=)
c.8844C>T (p.Ser2948=)
c.8634C>T (p.Ser2878=)
c.8280C>T (p.Ser2760=)
c.6177C>T (p.Ser2059=)
n.9127C>T
c.8763C>T (p.Ser2921=)
c.7959C>T (p.Ser2653=)
c.7764C>T (p.Ser2588=)
n.9176C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125250G>CCA359498332CPLANE1n.1951C>G
c.8952C>G (p.Ser2984Arg)
n.813C>G
c.8790C>G (p.Ser2930Arg)
c.5964C>G (n.5964C>G)
n.4133C>G
n.342-3466C>G
c.5988C>G (p.Ser1996Arg)
c.8949C>G (p.Ser2983Arg)
c.8841C>G (p.Ser2947Arg)
c.8823C>G (p.Ser2941Arg)
c.5595C>G (p.Ser1865Arg)
c.3525C>G (p.Ser1175Arg)
c.8898C>G (p.Ser2966Arg)
c.8844C>G (p.Ser2948Arg)
c.8634C>G (p.Ser2878Arg)
c.8280C>G (p.Ser2760Arg)
c.6177C>G (p.Ser2059Arg)
n.9127C>G
c.8763C>G (p.Ser2921Arg)
c.7959C>G (p.Ser2653Arg)
c.7764C>G (p.Ser2588Arg)
n.9176C>G
5g.37125250G=CA1539667578CPLANE1n.1951C=
c.8952C= (p.Ser2984=)
n.813C=
c.8790C= (p.Ser2930=)
c.5964C= (n.5964C=)
n.4133C=
n.342-3466C=
c.5988C= (p.Ser1996=)
c.8949C= (p.Ser2983=)
c.8841C= (p.Ser2947=)
c.8823C= (p.Ser2941=)
c.5595C= (p.Ser1865=)
c.3525C= (p.Ser1175=)
c.8898C= (p.Ser2966=)
c.8844C= (p.Ser2948=)
c.8634C= (p.Ser2878=)
c.8280C= (p.Ser2760=)
c.6177C= (p.Ser2059=)
n.9127C=
c.8763C= (p.Ser2921=)
c.7959C= (p.Ser2653=)
c.7764C= (p.Ser2588=)
n.9176C=
5g.37125250G>TCA359498335CPLANE1n.1951C>A
c.8952C>A (p.Ser2984Arg)
n.813C>A
c.8790C>A (p.Ser2930Arg)
c.5964C>A (n.5964C>A)
n.4133C>A
n.342-3466C>A
c.5988C>A (p.Ser1996Arg)
c.8949C>A (p.Ser2983Arg)
c.8841C>A (p.Ser2947Arg)
c.8823C>A (p.Ser2941Arg)
c.5595C>A (p.Ser1865Arg)
c.3525C>A (p.Ser1175Arg)
c.8898C>A (p.Ser2966Arg)
c.8844C>A (p.Ser2948Arg)
c.8634C>A (p.Ser2878Arg)
c.8280C>A (p.Ser2760Arg)
c.6177C>A (p.Ser2059Arg)
n.9127C>A
c.8763C>A (p.Ser2921Arg)
c.7959C>A (p.Ser2653Arg)
c.7764C>A (p.Ser2588Arg)
n.9176C>A
5g.37125251C>ACA359498340CPLANE1n.1950G>T
c.8951G>T (p.Ser2984Ile)
n.812G>T
c.8789G>T (p.Ser2930Ile)
c.5963G>T (n.5963G>T)
n.4132G>T
n.342-3467G>T
c.5987G>T (p.Ser1996Ile)
c.8948G>T (p.Ser2983Ile)
c.8840G>T (p.Ser2947Ile)
c.8822G>T (p.Ser2941Ile)
c.5594G>T (p.Ser1865Ile)
c.3524G>T (p.Ser1175Ile)
c.8897G>T (p.Ser2966Ile)
c.8843G>T (p.Ser2948Ile)
c.8633G>T (p.Ser2878Ile)
c.8279G>T (p.Ser2760Ile)
c.6176G>T (p.Ser2059Ile)
n.9126G>T
c.8762G>T (p.Ser2921Ile)
c.7958G>T (p.Ser2653Ile)
c.7763G>T (p.Ser2588Ile)
n.9175G>T
5g.37125251C=CA1539667580CPLANE1n.1950G=
c.8951G= (p.Ser2984=)
n.812G=
c.8789G= (p.Ser2930=)
c.5963G= (n.5963G=)
n.4132G=
n.342-3467G=
c.5987G= (p.Ser1996=)
c.8948G= (p.Ser2983=)
c.8840G= (p.Ser2947=)
c.8822G= (p.Ser2941=)
c.5594G= (p.Ser1865=)
c.3524G= (p.Ser1175=)
c.8897G= (p.Ser2966=)
c.8843G= (p.Ser2948=)
c.8633G= (p.Ser2878=)
c.8279G= (p.Ser2760=)
c.6176G= (p.Ser2059=)
n.9126G=
c.8762G= (p.Ser2921=)
c.7958G= (p.Ser2653=)
c.7763G= (p.Ser2588=)
n.9175G=
5g.37125251C>GCA359498344CPLANE1n.1950G>C
c.8951G>C (p.Ser2984Thr)
n.812G>C
c.8789G>C (p.Ser2930Thr)
c.5963G>C (n.5963G>C)
n.4132G>C
n.342-3467G>C
c.5987G>C (p.Ser1996Thr)
c.8948G>C (p.Ser2983Thr)
c.8840G>C (p.Ser2947Thr)
c.8822G>C (p.Ser2941Thr)
c.5594G>C (p.Ser1865Thr)
c.3524G>C (p.Ser1175Thr)
c.8897G>C (p.Ser2966Thr)
c.8843G>C (p.Ser2948Thr)
c.8633G>C (p.Ser2878Thr)
c.8279G>C (p.Ser2760Thr)
c.6176G>C (p.Ser2059Thr)
n.9126G>C
c.8762G>C (p.Ser2921Thr)
c.7958G>C (p.Ser2653Thr)
c.7763G>C (p.Ser2588Thr)
n.9175G>C
 dbSNP gnomAD v2 gnomAD v4
5g.37125251C>TCA359498353CPLANE1n.1950G>A
c.8951G>A (p.Ser2984Asn)
n.812G>A
c.8789G>A (p.Ser2930Asn)
c.5963G>A (n.5963G>A)
n.4132G>A
n.342-3467G>A
c.5987G>A (p.Ser1996Asn)
c.8948G>A (p.Ser2983Asn)
c.8840G>A (p.Ser2947Asn)
c.8822G>A (p.Ser2941Asn)
c.5594G>A (p.Ser1865Asn)
c.3524G>A (p.Ser1175Asn)
c.8897G>A (p.Ser2966Asn)
c.8843G>A (p.Ser2948Asn)
c.8633G>A (p.Ser2878Asn)
c.8279G>A (p.Ser2760Asn)
c.6176G>A (p.Ser2059Asn)
n.9126G>A
c.8762G>A (p.Ser2921Asn)
c.7958G>A (p.Ser2653Asn)
c.7763G>A (p.Ser2588Asn)
n.9175G>A
5g.37125252T>ACA359498378CPLANE1n.1949A>T
c.8950A>T (p.Ser2984Cys)
n.811A>T
c.8788A>T (p.Ser2930Cys)
c.5962A>T (n.5962A>T)
n.4131A>T
n.342-3468A>T
c.5986A>T (p.Ser1996Cys)
c.8947A>T (p.Ser2983Cys)
c.8839A>T (p.Ser2947Cys)
c.8821A>T (p.Ser2941Cys)
c.5593A>T (p.Ser1865Cys)
c.3523A>T (p.Ser1175Cys)
c.8896A>T (p.Ser2966Cys)
c.8842A>T (p.Ser2948Cys)
c.8632A>T (p.Ser2878Cys)
c.8278A>T (p.Ser2760Cys)
c.6175A>T (p.Ser2059Cys)
n.9125A>T
c.8761A>T (p.Ser2921Cys)
c.7957A>T (p.Ser2653Cys)
c.7762A>T (p.Ser2588Cys)
n.9174A>T
5g.37125252T>CCA359498371CPLANE1n.1949A>G
c.8950A>G (p.Ser2984Gly)
n.811A>G
c.8788A>G (p.Ser2930Gly)
c.5962A>G (n.5962A>G)
n.4131A>G
n.342-3468A>G
c.5986A>G (p.Ser1996Gly)
c.8947A>G (p.Ser2983Gly)
c.8839A>G (p.Ser2947Gly)
c.8821A>G (p.Ser2941Gly)
c.5593A>G (p.Ser1865Gly)
c.3523A>G (p.Ser1175Gly)
c.8896A>G (p.Ser2966Gly)
c.8842A>G (p.Ser2948Gly)
c.8632A>G (p.Ser2878Gly)
c.8278A>G (p.Ser2760Gly)
c.6175A>G (p.Ser2059Gly)
n.9125A>G
c.8761A>G (p.Ser2921Gly)
c.7957A>G (p.Ser2653Gly)
c.7762A>G (p.Ser2588Gly)
n.9174A>G
5g.37125252T>GCA359498359CPLANE1n.1949A>C
c.8950A>C (p.Ser2984Arg)
n.811A>C
c.8788A>C (p.Ser2930Arg)
c.5962A>C (n.5962A>C)
n.4131A>C
n.342-3468A>C
c.5986A>C (p.Ser1996Arg)
c.8947A>C (p.Ser2983Arg)
c.8839A>C (p.Ser2947Arg)
c.8821A>C (p.Ser2941Arg)
c.5593A>C (p.Ser1865Arg)
c.3523A>C (p.Ser1175Arg)
c.8896A>C (p.Ser2966Arg)
c.8842A>C (p.Ser2948Arg)
c.8632A>C (p.Ser2878Arg)
c.8278A>C (p.Ser2760Arg)
c.6175A>C (p.Ser2059Arg)
n.9125A>C
c.8761A>C (p.Ser2921Arg)
c.7957A>C (p.Ser2653Arg)
c.7762A>C (p.Ser2588Arg)
n.9174A>C
5g.37125253T>ACA359498381CPLANE1n.1948A>T
c.8949A>T (p.Arg2983Ser)
n.810A>T
c.8787A>T (p.Arg2929Ser)
c.5961A>T (n.5961A>T)
n.4130A>T
n.342-3469A>T
c.5985A>T (p.Arg1995Ser)
c.8946A>T (p.Arg2982Ser)
c.8838A>T (p.Arg2946Ser)
c.8820A>T (p.Arg2940Ser)
c.5592A>T (p.Arg1864Ser)
c.3522A>T (p.Arg1174Ser)
c.8895A>T (p.Arg2965Ser)
c.8841A>T (p.Arg2947Ser)
c.8631A>T (p.Arg2877Ser)
c.8277A>T (p.Arg2759Ser)
c.6174A>T (p.Arg2058Ser)
n.9124A>T
c.8760A>T (p.Arg2920Ser)
c.7956A>T (p.Arg2652Ser)
c.7761A>T (p.Arg2587Ser)
n.9173A>T
5g.37125253T>CCA443921978CPLANE1n.1948A>G
c.8949A>G (p.Arg2983=)
n.810A>G
c.8787A>G (p.Arg2929=)
c.5961A>G (n.5961A>G)
n.4130A>G
n.342-3469A>G
c.5985A>G (p.Arg1995=)
c.8946A>G (p.Arg2982=)
c.8838A>G (p.Arg2946=)
c.8820A>G (p.Arg2940=)
c.5592A>G (p.Arg1864=)
c.3522A>G (p.Arg1174=)
c.8895A>G (p.Arg2965=)
c.8841A>G (p.Arg2947=)
c.8631A>G (p.Arg2877=)
c.8277A>G (p.Arg2759=)
c.6174A>G (p.Arg2058=)
n.9124A>G
c.8760A>G (p.Arg2920=)
c.7956A>G (p.Arg2652=)
c.7761A>G (p.Arg2587=)
n.9173A>G
5g.37125253T>GCA359498382CPLANE1n.1948A>C
c.8949A>C (p.Arg2983Ser)
n.810A>C
c.8787A>C (p.Arg2929Ser)
c.5961A>C (n.5961A>C)
n.4130A>C
n.342-3469A>C
c.5985A>C (p.Arg1995Ser)
c.8946A>C (p.Arg2982Ser)
c.8838A>C (p.Arg2946Ser)
c.8820A>C (p.Arg2940Ser)
c.5592A>C (p.Arg1864Ser)
c.3522A>C (p.Arg1174Ser)
c.8895A>C (p.Arg2965Ser)
c.8841A>C (p.Arg2947Ser)
c.8631A>C (p.Arg2877Ser)
c.8277A>C (p.Arg2759Ser)
c.6174A>C (p.Arg2058Ser)
n.9124A>C
c.8760A>C (p.Arg2920Ser)
c.7956A>C (p.Arg2652Ser)
c.7761A>C (p.Arg2587Ser)
n.9173A>C
5g.37125254C>ACA359498383CPLANE1n.1947G>T
c.8948G>T (p.Arg2983Ile)
n.809G>T
c.8786G>T (p.Arg2929Ile)
c.5960G>T (n.5960G>T)
n.4129G>T
n.342-3470G>T
c.5984G>T (p.Arg1995Ile)
c.8945G>T (p.Arg2982Ile)
c.8837G>T (p.Arg2946Ile)
c.8819G>T (p.Arg2940Ile)
c.5591G>T (p.Arg1864Ile)
c.3521G>T (p.Arg1174Ile)
c.8894G>T (p.Arg2965Ile)
c.8840G>T (p.Arg2947Ile)
c.8630G>T (p.Arg2877Ile)
c.8276G>T (p.Arg2759Ile)
c.6173G>T (p.Arg2058Ile)
n.9123G>T
c.8759G>T (p.Arg2920Ile)
c.7955G>T (p.Arg2652Ile)
c.7760G>T (p.Arg2587Ile)
n.9172G>T
5g.37125254C>GCA359498387CPLANE1n.1947G>C
c.8948G>C (p.Arg2983Thr)
n.809G>C
c.8786G>C (p.Arg2929Thr)
c.5960G>C (n.5960G>C)
n.4129G>C
n.342-3470G>C
c.5984G>C (p.Arg1995Thr)
c.8945G>C (p.Arg2982Thr)
c.8837G>C (p.Arg2946Thr)
c.8819G>C (p.Arg2940Thr)
c.5591G>C (p.Arg1864Thr)
c.3521G>C (p.Arg1174Thr)
c.8894G>C (p.Arg2965Thr)
c.8840G>C (p.Arg2947Thr)
c.8630G>C (p.Arg2877Thr)
c.8276G>C (p.Arg2759Thr)
c.6173G>C (p.Arg2058Thr)
n.9123G>C
c.8759G>C (p.Arg2920Thr)
c.7955G>C (p.Arg2652Thr)
c.7760G>C (p.Arg2587Thr)
n.9172G>C
5g.37125254C>TCA359498390CPLANE1n.1947G>A
c.8948G>A (p.Arg2983Lys)
n.809G>A
c.8786G>A (p.Arg2929Lys)
c.5960G>A (n.5960G>A)
n.4129G>A
n.342-3470G>A
c.5984G>A (p.Arg1995Lys)
c.8945G>A (p.Arg2982Lys)
c.8837G>A (p.Arg2946Lys)
c.8819G>A (p.Arg2940Lys)
c.5591G>A (p.Arg1864Lys)
c.3521G>A (p.Arg1174Lys)
c.8894G>A (p.Arg2965Lys)
c.8840G>A (p.Arg2947Lys)
c.8630G>A (p.Arg2877Lys)
c.8276G>A (p.Arg2759Lys)
c.6173G>A (p.Arg2058Lys)
n.9123G>A
c.8759G>A (p.Arg2920Lys)
c.7955G>A (p.Arg2652Lys)
c.7760G>A (p.Arg2587Lys)
n.9172G>A
 gnomAD v4
5g.37125254_37125271delinsCTGGGACAGAAAGGATCACA1539667582CPLANE1n.1930_1947delinsTGATCCTTTCTGTCCCAG
c.8931_8948delinsTGATCCTTTCTGTCCCAG (p.His2977=)
n.792_809delinsTGATCCTTTCTGTCCCAG
c.8769_8786delinsTGATCCTTTCTGTCCCAG (p.His2923=)
c.5943_5960delinsTGATCCTTTCTGTCCCAG (n.5943_5960delinsTGATCCTTTCTGTCCCAG)
n.4112_4129delinsTGATCCTTTCTGTCCCAG
n.342-3487_342-3470delinsTGATCCTTTCTGTCCCAG
c.5967_5984delinsTGATCCTTTCTGTCCCAG (p.His1989=)
c.8928_8945delinsTGATCCTTTCTGTCCCAG (p.His2976=)
c.8820_8837delinsTGATCCTTTCTGTCCCAG (p.His2940=)
c.8802_8819delinsTGATCCTTTCTGTCCCAG (p.His2934=)
c.5574_5591delinsTGATCCTTTCTGTCCCAG (p.His1858=)
c.3504_3521delinsTGATCCTTTCTGTCCCAG (p.His1168=)
c.8877_8894delinsTGATCCTTTCTGTCCCAG (p.His2959=)
c.8823_8840delinsTGATCCTTTCTGTCCCAG (p.His2941=)
c.8613_8630delinsTGATCCTTTCTGTCCCAG (p.His2871=)
c.8259_8276delinsTGATCCTTTCTGTCCCAG (p.His2753=)
c.6156_6173delinsTGATCCTTTCTGTCCCAG (p.His2052=)
n.9106_9123delinsTGATCCTTTCTGTCCCAG
c.8742_8759delinsTGATCCTTTCTGTCCCAG (p.His2914=)
c.7938_7955delinsTGATCCTTTCTGTCCCAG (p.His2646=)
c.7743_7760delinsTGATCCTTTCTGTCCCAG (p.His2581=)
n.9155_9172delinsTGATCCTTTCTGTCCCAG
5g.37125255T>ACA359498396CPLANE1n.1946A>T
c.8947A>T (p.Arg2983Ter)
n.808A>T
c.8785A>T (p.Arg2929Ter)
c.5959A>T (n.5959A>T)
n.4128A>T
n.342-3471A>T
c.5983A>T (p.Arg1995Ter)
c.8944A>T (p.Arg2982Ter)
c.8836A>T (p.Arg2946Ter)
c.8818A>T (p.Arg2940Ter)
c.5590A>T (p.Arg1864Ter)
c.3520A>T (p.Arg1174Ter)
c.8893A>T (p.Arg2965Ter)
c.8839A>T (p.Arg2947Ter)
c.8629A>T (p.Arg2877Ter)
c.8275A>T (p.Arg2759Ter)
c.6172A>T (p.Arg2058Ter)
n.9122A>T
c.8758A>T (p.Arg2920Ter)
c.7954A>T (p.Arg2652Ter)
c.7759A>T (p.Arg2587Ter)
n.9171A>T
 ClinVar dbSNP
5g.37125255T>CCA359498398CPLANE1n.1946A>G
c.8947A>G (p.Arg2983Gly)
n.808A>G
c.8785A>G (p.Arg2929Gly)
c.5959A>G (n.5959A>G)
n.4128A>G
n.342-3471A>G
c.5983A>G (p.Arg1995Gly)
c.8944A>G (p.Arg2982Gly)
c.8836A>G (p.Arg2946Gly)
c.8818A>G (p.Arg2940Gly)
c.5590A>G (p.Arg1864Gly)
c.3520A>G (p.Arg1174Gly)
c.8893A>G (p.Arg2965Gly)
c.8839A>G (p.Arg2947Gly)
c.8629A>G (p.Arg2877Gly)
c.8275A>G (p.Arg2759Gly)
c.6172A>G (p.Arg2058Gly)
n.9122A>G
c.8758A>G (p.Arg2920Gly)
c.7954A>G (p.Arg2652Gly)
c.7759A>G (p.Arg2587Gly)
n.9171A>G
 dbSNP
5g.37125255T>GCA443921979CPLANE1n.1946A>C
c.8947A>C (p.Arg2983=)
n.808A>C
c.8785A>C (p.Arg2929=)
c.5959A>C (n.5959A>C)
n.4128A>C
n.342-3471A>C
c.5983A>C (p.Arg1995=)
c.8944A>C (p.Arg2982=)
c.8836A>C (p.Arg2946=)
c.8818A>C (p.Arg2940=)
c.5590A>C (p.Arg1864=)
c.3520A>C (p.Arg1174=)
c.8893A>C (p.Arg2965=)
c.8839A>C (p.Arg2947=)
c.8629A>C (p.Arg2877=)
c.8275A>C (p.Arg2759=)
c.6172A>C (p.Arg2058=)
n.9122A>C
c.8758A>C (p.Arg2920=)
c.7954A>C (p.Arg2652=)
c.7759A>C (p.Arg2587=)
n.9171A>C
5g.37125255T=CA1539667584CPLANE1n.1946A=
c.8947A= (p.Arg2983=)
n.808A=
c.8785A= (p.Arg2929=)
c.5959A= (n.5959A=)
n.4128A=
n.342-3471A=
c.5983A= (p.Arg1995=)
c.8944A= (p.Arg2982=)
c.8836A= (p.Arg2946=)
c.8818A= (p.Arg2940=)
c.5590A= (p.Arg1864=)
c.3520A= (p.Arg1174=)
c.8893A= (p.Arg2965=)
c.8839A= (p.Arg2947=)
c.8629A= (p.Arg2877=)
c.8275A= (p.Arg2759=)
c.6172A= (p.Arg2058=)
n.9122A=
c.8758A= (p.Arg2920=)
c.7954A= (p.Arg2652=)
c.7759A= (p.Arg2587=)
n.9171A=
5g.37125257_37125273delCA559295394CPLANE1n.1930_1946del
c.8931_8947del (p.His2977GlnfsTer21)
n.792_808del
c.8769_8785del (p.His2923GlnfsTer21)
c.5943_5959del (n.5943_5959del)
n.4112_4128del
n.342-3487_342-3471del
c.5967_5983del (p.His1989GlnfsTer21)
c.8928_8944del (p.His2976GlnfsTer21)
c.8820_8836del (p.His2940GlnfsTer21)
c.8802_8818del (p.His2934GlnfsTer21)
c.5574_5590del (p.His1858GlnfsTer21)
c.3504_3520del (p.His1168GlnfsTer21)
c.8877_8893del (p.His2959GlnfsTer21)
c.8823_8839del (p.His2941GlnfsTer21)
c.8613_8629del (p.His2871GlnfsTer21)
c.8259_8275del (p.His2753GlnfsTer21)
c.6156_6172del (p.His2052GlnfsTer21)
n.9106_9122del
c.8742_8758del (p.His2914GlnfsTer21)
c.7938_7954del (p.His2646GlnfsTer21)
c.7743_7759del (p.His2581GlnfsTer21)
n.9155_9171del
 dbSNP gnomAD v2
5g.37125256G>ACA443921980CPLANE1n.1945C>T
c.8946C>T (p.Pro2982=)
n.807C>T
c.8784C>T (p.Pro2928=)
c.5958C>T (n.5958C>T)
n.4127C>T
n.342-3472C>T
c.5982C>T (p.Pro1994=)
c.8943C>T (p.Pro2981=)
c.8835C>T (p.Pro2945=)
c.8817C>T (p.Pro2939=)
c.5589C>T (p.Pro1863=)
c.3519C>T (p.Pro1173=)
c.8892C>T (p.Pro2964=)
c.8838C>T (p.Pro2946=)
c.8628C>T (p.Pro2876=)
c.8274C>T (p.Pro2758=)
c.6171C>T (p.Pro2057=)
n.9121C>T
c.8757C>T (p.Pro2919=)
c.7953C>T (p.Pro2651=)
c.7758C>T (p.Pro2586=)
n.9170C>T
5g.37125256G>CCA443921981CPLANE1n.1945C>G
c.8946C>G (p.Pro2982=)
n.807C>G
c.8784C>G (p.Pro2928=)
c.5958C>G (n.5958C>G)
n.4127C>G
n.342-3472C>G
c.5982C>G (p.Pro1994=)
c.8943C>G (p.Pro2981=)
c.8835C>G (p.Pro2945=)
c.8817C>G (p.Pro2939=)
c.5589C>G (p.Pro1863=)
c.3519C>G (p.Pro1173=)
c.8892C>G (p.Pro2964=)
c.8838C>G (p.Pro2946=)
c.8628C>G (p.Pro2876=)
c.8274C>G (p.Pro2758=)
c.6171C>G (p.Pro2057=)
n.9121C>G
c.8757C>G (p.Pro2919=)
c.7953C>G (p.Pro2651=)
c.7758C>G (p.Pro2586=)
n.9170C>G
5g.37125256G>TCA443921982CPLANE1n.1945C>A
c.8946C>A (p.Pro2982=)
n.807C>A
c.8784C>A (p.Pro2928=)
c.5958C>A (n.5958C>A)
n.4127C>A
n.342-3472C>A
c.5982C>A (p.Pro1994=)
c.8943C>A (p.Pro2981=)
c.8835C>A (p.Pro2945=)
c.8817C>A (p.Pro2939=)
c.5589C>A (p.Pro1863=)
c.3519C>A (p.Pro1173=)
c.8892C>A (p.Pro2964=)
c.8838C>A (p.Pro2946=)
c.8628C>A (p.Pro2876=)
c.8274C>A (p.Pro2758=)
c.6171C>A (p.Pro2057=)
n.9121C>A
c.8757C>A (p.Pro2919=)
c.7953C>A (p.Pro2651=)
c.7758C>A (p.Pro2586=)
n.9170C>A
5g.37125257G>ACA359498408CPLANE1n.1944C>T
c.8945C>T (p.Pro2982Leu)
n.806C>T
c.8783C>T (p.Pro2928Leu)
c.5957C>T (n.5957C>T)
n.4126C>T
n.342-3473C>T
c.5981C>T (p.Pro1994Leu)
c.8942C>T (p.Pro2981Leu)
c.8834C>T (p.Pro2945Leu)
c.8816C>T (p.Pro2939Leu)
c.5588C>T (p.Pro1863Leu)
c.3518C>T (p.Pro1173Leu)
c.8891C>T (p.Pro2964Leu)
c.8837C>T (p.Pro2946Leu)
c.8627C>T (p.Pro2876Leu)
c.8273C>T (p.Pro2758Leu)
c.6170C>T (p.Pro2057Leu)
n.9120C>T
c.8756C>T (p.Pro2919Leu)
c.7952C>T (p.Pro2651Leu)
c.7757C>T (p.Pro2586Leu)
n.9169C>T
5g.37125257G>CCA359498400CPLANE1n.1944C>G
c.8945C>G (p.Pro2982Arg)
n.806C>G
c.8783C>G (p.Pro2928Arg)
c.5957C>G (n.5957C>G)
n.4126C>G
n.342-3473C>G
c.5981C>G (p.Pro1994Arg)
c.8942C>G (p.Pro2981Arg)
c.8834C>G (p.Pro2945Arg)
c.8816C>G (p.Pro2939Arg)
c.5588C>G (p.Pro1863Arg)
c.3518C>G (p.Pro1173Arg)
c.8891C>G (p.Pro2964Arg)
c.8837C>G (p.Pro2946Arg)
c.8627C>G (p.Pro2876Arg)
c.8273C>G (p.Pro2758Arg)
c.6170C>G (p.Pro2057Arg)
n.9120C>G
c.8756C>G (p.Pro2919Arg)
c.7952C>G (p.Pro2651Arg)
c.7757C>G (p.Pro2586Arg)
n.9169C>G
5g.37125257G>TCA359498404CPLANE1n.1944C>A
c.8945C>A (p.Pro2982His)
n.806C>A
c.8783C>A (p.Pro2928His)
c.5957C>A (n.5957C>A)
n.4126C>A
n.342-3473C>A
c.5981C>A (p.Pro1994His)
c.8942C>A (p.Pro2981His)
c.8834C>A (p.Pro2945His)
c.8816C>A (p.Pro2939His)
c.5588C>A (p.Pro1863His)
c.3518C>A (p.Pro1173His)
c.8891C>A (p.Pro2964His)
c.8837C>A (p.Pro2946His)
c.8627C>A (p.Pro2876His)
c.8273C>A (p.Pro2758His)
c.6170C>A (p.Pro2057His)
n.9120C>A
c.8756C>A (p.Pro2919His)
c.7952C>A (p.Pro2651His)
c.7757C>A (p.Pro2586His)
n.9169C>A
5g.37125258G>ACA359498414CPLANE1n.1943C>T
c.8944C>T (p.Pro2982Ser)
n.805C>T
c.8782C>T (p.Pro2928Ser)
c.5956C>T (n.5956C>T)
n.4125C>T
n.342-3474C>T
c.5980C>T (p.Pro1994Ser)
c.8941C>T (p.Pro2981Ser)
c.8833C>T (p.Pro2945Ser)
c.8815C>T (p.Pro2939Ser)
c.5587C>T (p.Pro1863Ser)
c.3517C>T (p.Pro1173Ser)
c.8890C>T (p.Pro2964Ser)
c.8836C>T (p.Pro2946Ser)
c.8626C>T (p.Pro2876Ser)
c.8272C>T (p.Pro2758Ser)
c.6169C>T (p.Pro2057Ser)
n.9119C>T
c.8755C>T (p.Pro2919Ser)
c.7951C>T (p.Pro2651Ser)
c.7756C>T (p.Pro2586Ser)
n.9168C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37125258G>CCA359498417CPLANE1n.1943C>G
c.8944C>G (p.Pro2982Ala)
n.805C>G
c.8782C>G (p.Pro2928Ala)
c.5956C>G (n.5956C>G)
n.4125C>G
n.342-3474C>G
c.5980C>G (p.Pro1994Ala)
c.8941C>G (p.Pro2981Ala)
c.8833C>G (p.Pro2945Ala)
c.8815C>G (p.Pro2939Ala)
c.5587C>G (p.Pro1863Ala)
c.3517C>G (p.Pro1173Ala)
c.8890C>G (p.Pro2964Ala)
c.8836C>G (p.Pro2946Ala)
c.8626C>G (p.Pro2876Ala)
c.8272C>G (p.Pro2758Ala)
c.6169C>G (p.Pro2057Ala)
n.9119C>G
c.8755C>G (p.Pro2919Ala)
c.7951C>G (p.Pro2651Ala)
c.7756C>G (p.Pro2586Ala)
n.9168C>G
5g.37125258G=CA1539667587CPLANE1n.1943C=
c.8944C= (p.Pro2982=)
n.805C=
c.8782C= (p.Pro2928=)
c.5956C= (n.5956C=)
n.4125C=
n.342-3474C=
c.5980C= (p.Pro1994=)
c.8941C= (p.Pro2981=)
c.8833C= (p.Pro2945=)
c.8815C= (p.Pro2939=)
c.5587C= (p.Pro1863=)
c.3517C= (p.Pro1173=)
c.8890C= (p.Pro2964=)
c.8836C= (p.Pro2946=)
c.8626C= (p.Pro2876=)
c.8272C= (p.Pro2758=)
c.6169C= (p.Pro2057=)
n.9119C=
c.8755C= (p.Pro2919=)
c.7951C= (p.Pro2651=)
c.7756C= (p.Pro2586=)
n.9168C=
5g.37125258G>TCA359498418CPLANE1n.1943C>A
c.8944C>A (p.Pro2982Thr)
n.805C>A
c.8782C>A (p.Pro2928Thr)
c.5956C>A (n.5956C>A)
n.4125C>A
n.342-3474C>A
c.5980C>A (p.Pro1994Thr)
c.8941C>A (p.Pro2981Thr)
c.8833C>A (p.Pro2945Thr)
c.8815C>A (p.Pro2939Thr)
c.5587C>A (p.Pro1863Thr)
c.3517C>A (p.Pro1173Thr)
c.8890C>A (p.Pro2964Thr)
c.8836C>A (p.Pro2946Thr)
c.8626C>A (p.Pro2876Thr)
c.8272C>A (p.Pro2758Thr)
c.6169C>A (p.Pro2057Thr)
n.9119C>A
c.8755C>A (p.Pro2919Thr)
c.7951C>A (p.Pro2651Thr)
c.7756C>A (p.Pro2586Thr)
n.9168C>A
 gnomAD v4
5g.37125259A>CCA359498420CPLANE1n.1942T>G
c.8943T>G (p.Cys2981Trp)
n.804T>G
c.8781T>G (p.Cys2927Trp)
c.5955T>G (n.5955T>G)
n.4124T>G
n.342-3475T>G
c.5979T>G (p.Cys1993Trp)
c.8940T>G (p.Cys2980Trp)
c.8832T>G (p.Cys2944Trp)
c.8814T>G (p.Cys2938Trp)
c.5586T>G (p.Cys1862Trp)
c.3516T>G (p.Cys1172Trp)
c.8889T>G (p.Cys2963Trp)
c.8835T>G (p.Cys2945Trp)
c.8625T>G (p.Cys2875Trp)
c.8271T>G (p.Cys2757Trp)
c.6168T>G (p.Cys2056Trp)
n.9118T>G
c.8754T>G (p.Cys2918Trp)
c.7950T>G (p.Cys2650Trp)
c.7755T>G (p.Cys2585Trp)
n.9167T>G
5g.37125259A>GCA443921983CPLANE1n.1942T>C
c.8943T>C (p.Cys2981=)
n.804T>C
c.8781T>C (p.Cys2927=)
c.5955T>C (n.5955T>C)
n.4124T>C
n.342-3475T>C
c.5979T>C (p.Cys1993=)
c.8940T>C (p.Cys2980=)
c.8832T>C (p.Cys2944=)
c.8814T>C (p.Cys2938=)
c.5586T>C (p.Cys1862=)
c.3516T>C (p.Cys1172=)
c.8889T>C (p.Cys2963=)
c.8835T>C (p.Cys2945=)
c.8625T>C (p.Cys2875=)
c.8271T>C (p.Cys2757=)
c.6168T>C (p.Cys2056=)
n.9118T>C
c.8754T>C (p.Cys2918=)
c.7950T>C (p.Cys2650=)
c.7755T>C (p.Cys2585=)
n.9167T>C
5g.37125259A>TCA359498421CPLANE1n.1942T>A
c.8943T>A (p.Cys2981Ter)
n.804T>A
c.8781T>A (p.Cys2927Ter)
c.5955T>A (n.5955T>A)
n.4124T>A
n.342-3475T>A
c.5979T>A (p.Cys1993Ter)
c.8940T>A (p.Cys2980Ter)
c.8832T>A (p.Cys2944Ter)
c.8814T>A (p.Cys2938Ter)
c.5586T>A (p.Cys1862Ter)
c.3516T>A (p.Cys1172Ter)
c.8889T>A (p.Cys2963Ter)
c.8835T>A (p.Cys2945Ter)
c.8625T>A (p.Cys2875Ter)
c.8271T>A (p.Cys2757Ter)
c.6168T>A (p.Cys2056Ter)
n.9118T>A
c.8754T>A (p.Cys2918Ter)
c.7950T>A (p.Cys2650Ter)
c.7755T>A (p.Cys2585Ter)
n.9167T>A
5g.37125260C>ACA359498424CPLANE1n.1941G>T
c.8942G>T (p.Cys2981Phe)
n.803G>T
c.8780G>T (p.Cys2927Phe)
c.5954G>T (n.5954G>T)
n.4123G>T
n.342-3476G>T
c.5978G>T (p.Cys1993Phe)
c.8939G>T (p.Cys2980Phe)
c.8831G>T (p.Cys2944Phe)
c.8813G>T (p.Cys2938Phe)
c.5585G>T (p.Cys1862Phe)
c.3515G>T (p.Cys1172Phe)
c.8888G>T (p.Cys2963Phe)
c.8834G>T (p.Cys2945Phe)
c.8624G>T (p.Cys2875Phe)
c.8270G>T (p.Cys2757Phe)
c.6167G>T (p.Cys2056Phe)
n.9117G>T
c.8753G>T (p.Cys2918Phe)
c.7949G>T (p.Cys2650Phe)
c.7754G>T (p.Cys2585Phe)
n.9166G>T
5g.37125260C>GCA359498432CPLANE1n.1941G>C
c.8942G>C (p.Cys2981Ser)
n.803G>C
c.8780G>C (p.Cys2927Ser)
c.5954G>C (n.5954G>C)
n.4123G>C
n.342-3476G>C
c.5978G>C (p.Cys1993Ser)
c.8939G>C (p.Cys2980Ser)
c.8831G>C (p.Cys2944Ser)
c.8813G>C (p.Cys2938Ser)
c.5585G>C (p.Cys1862Ser)
c.3515G>C (p.Cys1172Ser)
c.8888G>C (p.Cys2963Ser)
c.8834G>C (p.Cys2945Ser)
c.8624G>C (p.Cys2875Ser)
c.8270G>C (p.Cys2757Ser)
c.6167G>C (p.Cys2056Ser)
n.9117G>C
c.8753G>C (p.Cys2918Ser)
c.7949G>C (p.Cys2650Ser)
c.7754G>C (p.Cys2585Ser)
n.9166G>C
5g.37125260C>TCA359498430CPLANE1n.1941G>A
c.8942G>A (p.Cys2981Tyr)
n.803G>A
c.8780G>A (p.Cys2927Tyr)
c.5954G>A (n.5954G>A)
n.4123G>A
n.342-3476G>A
c.5978G>A (p.Cys1993Tyr)
c.8939G>A (p.Cys2980Tyr)
c.8831G>A (p.Cys2944Tyr)
c.8813G>A (p.Cys2938Tyr)
c.5585G>A (p.Cys1862Tyr)
c.3515G>A (p.Cys1172Tyr)
c.8888G>A (p.Cys2963Tyr)
c.8834G>A (p.Cys2945Tyr)
c.8624G>A (p.Cys2875Tyr)
c.8270G>A (p.Cys2757Tyr)
c.6167G>A (p.Cys2056Tyr)
n.9117G>A
c.8753G>A (p.Cys2918Tyr)
c.7949G>A (p.Cys2650Tyr)
c.7754G>A (p.Cys2585Tyr)
n.9166G>A
5g.37125261A>CCA359498434CPLANE1n.1940T>G
c.8941T>G (p.Cys2981Gly)
n.802T>G
c.8779T>G (p.Cys2927Gly)
c.5953T>G (n.5953T>G)
n.4122T>G
n.342-3477T>G
c.5977T>G (p.Cys1993Gly)
c.8938T>G (p.Cys2980Gly)
c.8830T>G (p.Cys2944Gly)
c.8812T>G (p.Cys2938Gly)
c.5584T>G (p.Cys1862Gly)
c.3514T>G (p.Cys1172Gly)
c.8887T>G (p.Cys2963Gly)
c.8833T>G (p.Cys2945Gly)
c.8623T>G (p.Cys2875Gly)
c.8269T>G (p.Cys2757Gly)
c.6166T>G (p.Cys2056Gly)
n.9116T>G
c.8752T>G (p.Cys2918Gly)
c.7948T>G (p.Cys2650Gly)
c.7753T>G (p.Cys2585Gly)
n.9165T>G
5g.37125261A>GCA359498435CPLANE1n.1940T>C
c.8941T>C (p.Cys2981Arg)
n.802T>C
c.8779T>C (p.Cys2927Arg)
c.5953T>C (n.5953T>C)
n.4122T>C
n.342-3477T>C
c.5977T>C (p.Cys1993Arg)
c.8938T>C (p.Cys2980Arg)
c.8830T>C (p.Cys2944Arg)
c.8812T>C (p.Cys2938Arg)
c.5584T>C (p.Cys1862Arg)
c.3514T>C (p.Cys1172Arg)
c.8887T>C (p.Cys2963Arg)
c.8833T>C (p.Cys2945Arg)
c.8623T>C (p.Cys2875Arg)
c.8269T>C (p.Cys2757Arg)
c.6166T>C (p.Cys2056Arg)
n.9116T>C
c.8752T>C (p.Cys2918Arg)
c.7948T>C (p.Cys2650Arg)
c.7753T>C (p.Cys2585Arg)
n.9165T>C
5g.37125261A>TCA359498438CPLANE1n.1940T>A
c.8941T>A (p.Cys2981Ser)
n.802T>A
c.8779T>A (p.Cys2927Ser)
c.5953T>A (n.5953T>A)
n.4122T>A
n.342-3477T>A
c.5977T>A (p.Cys1993Ser)
c.8938T>A (p.Cys2980Ser)
c.8830T>A (p.Cys2944Ser)
c.8812T>A (p.Cys2938Ser)
c.5584T>A (p.Cys1862Ser)
c.3514T>A (p.Cys1172Ser)
c.8887T>A (p.Cys2963Ser)
c.8833T>A (p.Cys2945Ser)
c.8623T>A (p.Cys2875Ser)
c.8269T>A (p.Cys2757Ser)
c.6166T>A (p.Cys2056Ser)
n.9116T>A
c.8752T>A (p.Cys2918Ser)
c.7948T>A (p.Cys2650Ser)
c.7753T>A (p.Cys2585Ser)
n.9165T>A
5g.37125262delCA645544871CPLANE1n.1939del
c.8940del (p.Cys2981ValfsTer9)
n.801del
c.8778del (p.Cys2927ValfsTer9)
c.5952del (n.5952del)
n.4121del
n.342-3478del
c.5976del (p.Cys1993ValfsTer9)
c.8937del (p.Cys2980ValfsTer9)
c.8829del (p.Cys2944ValfsTer9)
c.8811del (p.Cys2938ValfsTer9)
c.5583del (p.Cys1862ValfsTer9)
c.3513del (p.Cys1172ValfsTer9)
c.8886del (p.Cys2963ValfsTer9)
c.8832del (p.Cys2945ValfsTer9)
c.8622del (p.Cys2875ValfsTer9)
c.8268del (p.Cys2757ValfsTer9)
c.6165del (p.Cys2056ValfsTer9)
n.9115del
c.8751del (p.Cys2918ValfsTer9)
c.7947del (p.Cys2650ValfsTer9)
c.7752del (p.Cys2585ValfsTer9)
n.9164del
 COSMIC COSMIC
5g.37125262G>ACA443921984CPLANE1n.1939C>T
c.8940C>T (p.Phe2980=)
n.801C>T
c.8778C>T (p.Phe2926=)
c.5952C>T (n.5952C>T)
n.4121C>T
n.342-3478C>T
c.5976C>T (p.Phe1992=)
c.8937C>T (p.Phe2979=)
c.8829C>T (p.Phe2943=)
c.8811C>T (p.Phe2937=)
c.5583C>T (p.Phe1861=)
c.3513C>T (p.Phe1171=)
c.8886C>T (p.Phe2962=)
c.8832C>T (p.Phe2944=)
c.8622C>T (p.Phe2874=)
c.8268C>T (p.Phe2756=)
c.6165C>T (p.Phe2055=)
n.9115C>T
c.8751C>T (p.Phe2917=)
c.7947C>T (p.Phe2649=)
c.7752C>T (p.Phe2584=)
n.9164C>T
5g.37125262G>CCA359498440CPLANE1n.1939C>G
c.8940C>G (p.Phe2980Leu)
n.801C>G
c.8778C>G (p.Phe2926Leu)
c.5952C>G (n.5952C>G)
n.4121C>G
n.342-3478C>G
c.5976C>G (p.Phe1992Leu)
c.8937C>G (p.Phe2979Leu)
c.8829C>G (p.Phe2943Leu)
c.8811C>G (p.Phe2937Leu)
c.5583C>G (p.Phe1861Leu)
c.3513C>G (p.Phe1171Leu)
c.8886C>G (p.Phe2962Leu)
c.8832C>G (p.Phe2944Leu)
c.8622C>G (p.Phe2874Leu)
c.8268C>G (p.Phe2756Leu)
c.6165C>G (p.Phe2055Leu)
n.9115C>G
c.8751C>G (p.Phe2917Leu)
c.7947C>G (p.Phe2649Leu)
c.7752C>G (p.Phe2584Leu)
n.9164C>G
5g.37125262G>TCA359498462CPLANE1n.1939C>A
c.8940C>A (p.Phe2980Leu)
n.801C>A
c.8778C>A (p.Phe2926Leu)
c.5952C>A (n.5952C>A)
n.4121C>A
n.342-3478C>A
c.5976C>A (p.Phe1992Leu)
c.8937C>A (p.Phe2979Leu)
c.8829C>A (p.Phe2943Leu)
c.8811C>A (p.Phe2937Leu)
c.5583C>A (p.Phe1861Leu)
c.3513C>A (p.Phe1171Leu)
c.8886C>A (p.Phe2962Leu)
c.8832C>A (p.Phe2944Leu)
c.8622C>A (p.Phe2874Leu)
c.8268C>A (p.Phe2756Leu)
c.6165C>A (p.Phe2055Leu)
n.9115C>A
c.8751C>A (p.Phe2917Leu)
c.7947C>A (p.Phe2649Leu)
c.7752C>A (p.Phe2584Leu)
n.9164C>A
5g.37125263A>CCA359498467CPLANE1n.1938T>G
c.8939T>G (p.Phe2980Cys)
n.800T>G
c.8777T>G (p.Phe2926Cys)
c.5951T>G (n.5951T>G)
n.4120T>G
n.342-3479T>G
c.5975T>G (p.Phe1992Cys)
c.8936T>G (p.Phe2979Cys)
c.8828T>G (p.Phe2943Cys)
c.8810T>G (p.Phe2937Cys)
c.5582T>G (p.Phe1861Cys)
c.3512T>G (p.Phe1171Cys)
c.8885T>G (p.Phe2962Cys)
c.8831T>G (p.Phe2944Cys)
c.8621T>G (p.Phe2874Cys)
c.8267T>G (p.Phe2756Cys)
c.6164T>G (p.Phe2055Cys)
n.9114T>G
c.8750T>G (p.Phe2917Cys)
c.7946T>G (p.Phe2649Cys)
c.7751T>G (p.Phe2584Cys)
n.9163T>G
5g.37125263A>GCA359498468CPLANE1n.1938T>C
c.8939T>C (p.Phe2980Ser)
n.800T>C
c.8777T>C (p.Phe2926Ser)
c.5951T>C (n.5951T>C)
n.4120T>C
n.342-3479T>C
c.5975T>C (p.Phe1992Ser)
c.8936T>C (p.Phe2979Ser)
c.8828T>C (p.Phe2943Ser)
c.8810T>C (p.Phe2937Ser)
c.5582T>C (p.Phe1861Ser)
c.3512T>C (p.Phe1171Ser)
c.8885T>C (p.Phe2962Ser)
c.8831T>C (p.Phe2944Ser)
c.8621T>C (p.Phe2874Ser)
c.8267T>C (p.Phe2756Ser)
c.6164T>C (p.Phe2055Ser)
n.9114T>C
c.8750T>C (p.Phe2917Ser)
c.7946T>C (p.Phe2649Ser)
c.7751T>C (p.Phe2584Ser)
n.9163T>C
5g.37125263A>TCA359498469CPLANE1n.1938T>A
c.8939T>A (p.Phe2980Tyr)
n.800T>A
c.8777T>A (p.Phe2926Tyr)
c.5951T>A (n.5951T>A)
n.4120T>A
n.342-3479T>A
c.5975T>A (p.Phe1992Tyr)
c.8936T>A (p.Phe2979Tyr)
c.8828T>A (p.Phe2943Tyr)
c.8810T>A (p.Phe2937Tyr)
c.5582T>A (p.Phe1861Tyr)
c.3512T>A (p.Phe1171Tyr)
c.8885T>A (p.Phe2962Tyr)
c.8831T>A (p.Phe2944Tyr)
c.8621T>A (p.Phe2874Tyr)
c.8267T>A (p.Phe2756Tyr)
c.6164T>A (p.Phe2055Tyr)
n.9114T>A
c.8750T>A (p.Phe2917Tyr)
c.7946T>A (p.Phe2649Tyr)
c.7751T>A (p.Phe2584Tyr)
n.9163T>A
5g.37125264A>CCA359498472CPLANE1n.1937T>G
c.8938T>G (p.Phe2980Val)
n.799T>G
c.8776T>G (p.Phe2926Val)
c.5950T>G (n.5950T>G)
n.4119T>G
n.342-3480T>G
c.5974T>G (p.Phe1992Val)
c.8935T>G (p.Phe2979Val)
c.8827T>G (p.Phe2943Val)
c.8809T>G (p.Phe2937Val)
c.5581T>G (p.Phe1861Val)
c.3511T>G (p.Phe1171Val)
c.8884T>G (p.Phe2962Val)
c.8830T>G (p.Phe2944Val)
c.8620T>G (p.Phe2874Val)
c.8266T>G (p.Phe2756Val)
c.6163T>G (p.Phe2055Val)
n.9113T>G
c.8749T>G (p.Phe2917Val)
c.7945T>G (p.Phe2649Val)
c.7750T>G (p.Phe2584Val)
n.9162T>G
 gnomAD v4
5g.37125264A>GCA359498475CPLANE1n.1937T>C
c.8938T>C (p.Phe2980Leu)
n.799T>C
c.8776T>C (p.Phe2926Leu)
c.5950T>C (n.5950T>C)
n.4119T>C
n.342-3480T>C
c.5974T>C (p.Phe1992Leu)
c.8935T>C (p.Phe2979Leu)
c.8827T>C (p.Phe2943Leu)
c.8809T>C (p.Phe2937Leu)
c.5581T>C (p.Phe1861Leu)
c.3511T>C (p.Phe1171Leu)
c.8884T>C (p.Phe2962Leu)
c.8830T>C (p.Phe2944Leu)
c.8620T>C (p.Phe2874Leu)
c.8266T>C (p.Phe2756Leu)
c.6163T>C (p.Phe2055Leu)
n.9113T>C
c.8749T>C (p.Phe2917Leu)
c.7945T>C (p.Phe2649Leu)
c.7750T>C (p.Phe2584Leu)
n.9162T>C
5g.37125264A>TCA359498477CPLANE1n.1937T>A
c.8938T>A (p.Phe2980Ile)
n.799T>A
c.8776T>A (p.Phe2926Ile)
c.5950T>A (n.5950T>A)
n.4119T>A
n.342-3480T>A
c.5974T>A (p.Phe1992Ile)
c.8935T>A (p.Phe2979Ile)
c.8827T>A (p.Phe2943Ile)
c.8809T>A (p.Phe2937Ile)
c.5581T>A (p.Phe1861Ile)
c.3511T>A (p.Phe1171Ile)
c.8884T>A (p.Phe2962Ile)
c.8830T>A (p.Phe2944Ile)
c.8620T>A (p.Phe2874Ile)
c.8266T>A (p.Phe2756Ile)
c.6163T>A (p.Phe2055Ile)
n.9113T>A
c.8749T>A (p.Phe2917Ile)
c.7945T>A (p.Phe2649Ile)
c.7750T>A (p.Phe2584Ile)
n.9162T>A
5g.37125265A=CA1539667589CPLANE1n.1936T=
c.8937T= (p.Pro2979=)
n.798T=
c.8775T= (p.Pro2925=)
c.5949T= (n.5949T=)
n.4118T=
n.342-3481T=
c.5973T= (p.Pro1991=)
c.8934T= (p.Pro2978=)
c.8826T= (p.Pro2942=)
c.8808T= (p.Pro2936=)
c.5580T= (p.Pro1860=)
c.3510T= (p.Pro1170=)
c.8883T= (p.Pro2961=)
c.8829T= (p.Pro2943=)
c.8619T= (p.Pro2873=)
c.8265T= (p.Pro2755=)
c.6162T= (p.Pro2054=)
n.9112T=
c.8748T= (p.Pro2916=)
c.7944T= (p.Pro2648=)
c.7749T= (p.Pro2583=)
n.9161T=
5g.37125265A>CCA443921987CPLANE1n.1936T>G
c.8937T>G (p.Pro2979=)
n.798T>G
c.8775T>G (p.Pro2925=)
c.5949T>G (n.5949T>G)
n.4118T>G
n.342-3481T>G
c.5973T>G (p.Pro1991=)
c.8934T>G (p.Pro2978=)
c.8826T>G (p.Pro2942=)
c.8808T>G (p.Pro2936=)
c.5580T>G (p.Pro1860=)
c.3510T>G (p.Pro1170=)
c.8883T>G (p.Pro2961=)
c.8829T>G (p.Pro2943=)
c.8619T>G (p.Pro2873=)
c.8265T>G (p.Pro2755=)
c.6162T>G (p.Pro2054=)
n.9112T>G
c.8748T>G (p.Pro2916=)
c.7944T>G (p.Pro2648=)
c.7749T>G (p.Pro2583=)
n.9161T>G
5g.37125265A>GCA443921986CPLANE1n.1936T>C
c.8937T>C (p.Pro2979=)
n.798T>C
c.8775T>C (p.Pro2925=)
c.5949T>C (n.5949T>C)
n.4118T>C
n.342-3481T>C
c.5973T>C (p.Pro1991=)
c.8934T>C (p.Pro2978=)
c.8826T>C (p.Pro2942=)
c.8808T>C (p.Pro2936=)
c.5580T>C (p.Pro1860=)
c.3510T>C (p.Pro1170=)
c.8883T>C (p.Pro2961=)
c.8829T>C (p.Pro2943=)
c.8619T>C (p.Pro2873=)
c.8265T>C (p.Pro2755=)
c.6162T>C (p.Pro2054=)
n.9112T>C
c.8748T>C (p.Pro2916=)
c.7944T>C (p.Pro2648=)
c.7749T>C (p.Pro2583=)
n.9161T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37125265A>TCA443921985CPLANE1n.1936T>A
c.8937T>A (p.Pro2979=)
n.798T>A
c.8775T>A (p.Pro2925=)
c.5949T>A (n.5949T>A)
n.4118T>A
n.342-3481T>A
c.5973T>A (p.Pro1991=)
c.8934T>A (p.Pro2978=)
c.8826T>A (p.Pro2942=)
c.8808T>A (p.Pro2936=)
c.5580T>A (p.Pro1860=)
c.3510T>A (p.Pro1170=)
c.8883T>A (p.Pro2961=)
c.8829T>A (p.Pro2943=)
c.8619T>A (p.Pro2873=)
c.8265T>A (p.Pro2755=)
c.6162T>A (p.Pro2054=)
n.9112T>A
c.8748T>A (p.Pro2916=)
c.7944T>A (p.Pro2648=)
c.7749T>A (p.Pro2583=)
n.9161T>A
5g.37125266G>ACA359498487CPLANE1n.1935C>T
c.8936C>T (p.Pro2979Leu)
n.797C>T
c.8774C>T (p.Pro2925Leu)
c.5948C>T (n.5948C>T)
n.4117C>T
n.342-3482C>T
c.5972C>T (p.Pro1991Leu)
c.8933C>T (p.Pro2978Leu)
c.8825C>T (p.Pro2942Leu)
c.8807C>T (p.Pro2936Leu)
c.5579C>T (p.Pro1860Leu)
c.3509C>T (p.Pro1170Leu)
c.8882C>T (p.Pro2961Leu)
c.8828C>T (p.Pro2943Leu)
c.8618C>T (p.Pro2873Leu)
c.8264C>T (p.Pro2755Leu)
c.6161C>T (p.Pro2054Leu)
n.9111C>T
c.8747C>T (p.Pro2916Leu)
c.7943C>T (p.Pro2648Leu)
c.7748C>T (p.Pro2583Leu)
n.9160C>T
 COSMIC COSMIC
5g.37125266G>CCA359498510CPLANE1n.1935C>G
c.8936C>G (p.Pro2979Arg)
n.797C>G
c.8774C>G (p.Pro2925Arg)
c.5948C>G (n.5948C>G)
n.4117C>G
n.342-3482C>G
c.5972C>G (p.Pro1991Arg)
c.8933C>G (p.Pro2978Arg)
c.8825C>G (p.Pro2942Arg)
c.8807C>G (p.Pro2936Arg)
c.5579C>G (p.Pro1860Arg)
c.3509C>G (p.Pro1170Arg)
c.8882C>G (p.Pro2961Arg)
c.8828C>G (p.Pro2943Arg)
c.8618C>G (p.Pro2873Arg)
c.8264C>G (p.Pro2755Arg)
c.6161C>G (p.Pro2054Arg)
n.9111C>G
c.8747C>G (p.Pro2916Arg)
c.7943C>G (p.Pro2648Arg)
c.7748C>G (p.Pro2583Arg)
n.9160C>G
5g.37125266G=CA1539667591CPLANE1n.1935C=
c.8936C= (p.Pro2979=)
n.797C=
c.8774C= (p.Pro2925=)
c.5948C= (n.5948C=)
n.4117C=
n.342-3482C=
c.5972C= (p.Pro1991=)
c.8933C= (p.Pro2978=)
c.8825C= (p.Pro2942=)
c.8807C= (p.Pro2936=)
c.5579C= (p.Pro1860=)
c.3509C= (p.Pro1170=)
c.8882C= (p.Pro2961=)
c.8828C= (p.Pro2943=)
c.8618C= (p.Pro2873=)
c.8264C= (p.Pro2755=)
c.6161C= (p.Pro2054=)
n.9111C=
c.8747C= (p.Pro2916=)
c.7943C= (p.Pro2648=)
c.7748C= (p.Pro2583=)
n.9160C=
5g.37125266G>TCA117059131CPLANE1n.1935C>A
c.8936C>A (p.Pro2979His)
n.797C>A
c.8774C>A (p.Pro2925His)
c.5948C>A (n.5948C>A)
n.4117C>A
n.342-3482C>A
c.5972C>A (p.Pro1991His)
c.8933C>A (p.Pro2978His)
c.8825C>A (p.Pro2942His)
c.8807C>A (p.Pro2936His)
c.5579C>A (p.Pro1860His)
c.3509C>A (p.Pro1170His)
c.8882C>A (p.Pro2961His)
c.8828C>A (p.Pro2943His)
c.8618C>A (p.Pro2873His)
c.8264C>A (p.Pro2755His)
c.6161C>A (p.Pro2054His)
n.9111C>A
c.8747C>A (p.Pro2916His)
c.7943C>A (p.Pro2648His)
c.7748C>A (p.Pro2583His)
n.9160C>A
 dbSNP gnomAD v2 gnomAD v4
5g.37125267G>ACA359498527CPLANE1n.1934C>T
c.8935C>T (p.Pro2979Ser)
n.796C>T
c.8773C>T (p.Pro2925Ser)
c.5947C>T (n.5947C>T)
n.4116C>T
n.342-3483C>T
c.5971C>T (p.Pro1991Ser)
c.8932C>T (p.Pro2978Ser)
c.8824C>T (p.Pro2942Ser)
c.8806C>T (p.Pro2936Ser)
c.5578C>T (p.Pro1860Ser)
c.3508C>T (p.Pro1170Ser)
c.8881C>T (p.Pro2961Ser)
c.8827C>T (p.Pro2943Ser)
c.8617C>T (p.Pro2873Ser)
c.8263C>T (p.Pro2755Ser)
c.6160C>T (p.Pro2054Ser)
n.9110C>T
c.8746C>T (p.Pro2916Ser)
c.7942C>T (p.Pro2648Ser)
c.7747C>T (p.Pro2583Ser)
n.9159C>T
 COSMIC COSMIC
5g.37125267G>CCA359498553CPLANE1n.1934C>G
c.8935C>G (p.Pro2979Ala)
n.796C>G
c.8773C>G (p.Pro2925Ala)
c.5947C>G (n.5947C>G)
n.4116C>G
n.342-3483C>G
c.5971C>G (p.Pro1991Ala)
c.8932C>G (p.Pro2978Ala)
c.8824C>G (p.Pro2942Ala)
c.8806C>G (p.Pro2936Ala)
c.5578C>G (p.Pro1860Ala)
c.3508C>G (p.Pro1170Ala)
c.8881C>G (p.Pro2961Ala)
c.8827C>G (p.Pro2943Ala)
c.8617C>G (p.Pro2873Ala)
c.8263C>G (p.Pro2755Ala)
c.6160C>G (p.Pro2054Ala)
n.9110C>G
c.8746C>G (p.Pro2916Ala)
c.7942C>G (p.Pro2648Ala)
c.7747C>G (p.Pro2583Ala)
n.9159C>G
5g.37125267G>TCA359498539CPLANE1n.1934C>A
c.8935C>A (p.Pro2979Thr)
n.796C>A
c.8773C>A (p.Pro2925Thr)
c.5947C>A (n.5947C>A)
n.4116C>A
n.342-3483C>A
c.5971C>A (p.Pro1991Thr)
c.8932C>A (p.Pro2978Thr)
c.8824C>A (p.Pro2942Thr)
c.8806C>A (p.Pro2936Thr)
c.5578C>A (p.Pro1860Thr)
c.3508C>A (p.Pro1170Thr)
c.8881C>A (p.Pro2961Thr)
c.8827C>A (p.Pro2943Thr)
c.8617C>A (p.Pro2873Thr)
c.8263C>A (p.Pro2755Thr)
c.6160C>A (p.Pro2054Thr)
n.9110C>A
c.8746C>A (p.Pro2916Thr)
c.7942C>A (p.Pro2648Thr)
c.7747C>A (p.Pro2583Thr)
n.9159C>A
5g.37125268A>CCA359498561CPLANE1n.1933T>G
c.8934T>G (p.Asp2978Glu)
n.795T>G
c.8772T>G (p.Asp2924Glu)
c.5946T>G (n.5946T>G)
n.4115T>G
n.342-3484T>G
c.5970T>G (p.Asp1990Glu)
c.8931T>G (p.Asp2977Glu)
c.8823T>G (p.Asp2941Glu)
c.8805T>G (p.Asp2935Glu)
c.5577T>G (p.Asp1859Glu)
c.3507T>G (p.Asp1169Glu)
c.8880T>G (p.Asp2960Glu)
c.8826T>G (p.Asp2942Glu)
c.8616T>G (p.Asp2872Glu)
c.8262T>G (p.Asp2754Glu)
c.6159T>G (p.Asp2053Glu)
n.9109T>G
c.8745T>G (p.Asp2915Glu)
c.7941T>G (p.Asp2647Glu)
c.7746T>G (p.Asp2582Glu)
n.9158T>G
5g.37125268A>GCA443921988CPLANE1n.1933T>C
c.8934T>C (p.Asp2978=)
n.795T>C
c.8772T>C (p.Asp2924=)
c.5946T>C (n.5946T>C)
n.4115T>C
n.342-3484T>C
c.5970T>C (p.Asp1990=)
c.8931T>C (p.Asp2977=)
c.8823T>C (p.Asp2941=)
c.8805T>C (p.Asp2935=)
c.5577T>C (p.Asp1859=)
c.3507T>C (p.Asp1169=)
c.8880T>C (p.Asp2960=)
c.8826T>C (p.Asp2942=)
c.8616T>C (p.Asp2872=)
c.8262T>C (p.Asp2754=)
c.6159T>C (p.Asp2053=)
n.9109T>C
c.8745T>C (p.Asp2915=)
c.7941T>C (p.Asp2647=)
c.7746T>C (p.Asp2582=)
n.9158T>C
5g.37125268A>TCA359498565CPLANE1n.1933T>A
c.8934T>A (p.Asp2978Glu)
n.795T>A
c.8772T>A (p.Asp2924Glu)
c.5946T>A (n.5946T>A)
n.4115T>A
n.342-3484T>A
c.5970T>A (p.Asp1990Glu)
c.8931T>A (p.Asp2977Glu)
c.8823T>A (p.Asp2941Glu)
c.8805T>A (p.Asp2935Glu)
c.5577T>A (p.Asp1859Glu)
c.3507T>A (p.Asp1169Glu)
c.8880T>A (p.Asp2960Glu)
c.8826T>A (p.Asp2942Glu)
c.8616T>A (p.Asp2872Glu)
c.8262T>A (p.Asp2754Glu)
c.6159T>A (p.Asp2053Glu)
n.9109T>A
c.8745T>A (p.Asp2915Glu)
c.7941T>A (p.Asp2647Glu)
c.7746T>A (p.Asp2582Glu)
n.9158T>A
5g.37125269T>ACA359498577CPLANE1n.1932A>T
c.8933A>T (p.Asp2978Val)
n.794A>T
c.8771A>T (p.Asp2924Val)
c.5945A>T (n.5945A>T)
n.4114A>T
n.342-3485A>T
c.5969A>T (p.Asp1990Val)
c.8930A>T (p.Asp2977Val)
c.8822A>T (p.Asp2941Val)
c.8804A>T (p.Asp2935Val)
c.5576A>T (p.Asp1859Val)
c.3506A>T (p.Asp1169Val)
c.8879A>T (p.Asp2960Val)
c.8825A>T (p.Asp2942Val)
c.8615A>T (p.Asp2872Val)
c.8261A>T (p.Asp2754Val)
c.6158A>T (p.Asp2053Val)
n.9108A>T
c.8744A>T (p.Asp2915Val)
c.7940A>T (p.Asp2647Val)
c.7745A>T (p.Asp2582Val)
n.9157A>T
5g.37125269T>CCA359498581CPLANE1n.1932A>G
c.8933A>G (p.Asp2978Gly)
n.794A>G
c.8771A>G (p.Asp2924Gly)
c.5945A>G (n.5945A>G)
n.4114A>G
n.342-3485A>G
c.5969A>G (p.Asp1990Gly)
c.8930A>G (p.Asp2977Gly)
c.8822A>G (p.Asp2941Gly)
c.8804A>G (p.Asp2935Gly)
c.5576A>G (p.Asp1859Gly)
c.3506A>G (p.Asp1169Gly)
c.8879A>G (p.Asp2960Gly)
c.8825A>G (p.Asp2942Gly)
c.8615A>G (p.Asp2872Gly)
c.8261A>G (p.Asp2754Gly)
c.6158A>G (p.Asp2053Gly)
n.9108A>G
c.8744A>G (p.Asp2915Gly)
c.7940A>G (p.Asp2647Gly)
c.7745A>G (p.Asp2582Gly)
n.9157A>G
5g.37125269T>GCA359498582CPLANE1n.1932A>C
c.8933A>C (p.Asp2978Ala)
n.794A>C
c.8771A>C (p.Asp2924Ala)
c.5945A>C (n.5945A>C)
n.4114A>C
n.342-3485A>C
c.5969A>C (p.Asp1990Ala)
c.8930A>C (p.Asp2977Ala)
c.8822A>C (p.Asp2941Ala)
c.8804A>C (p.Asp2935Ala)
c.5576A>C (p.Asp1859Ala)
c.3506A>C (p.Asp1169Ala)
c.8879A>C (p.Asp2960Ala)
c.8825A>C (p.Asp2942Ala)
c.8615A>C (p.Asp2872Ala)
c.8261A>C (p.Asp2754Ala)
c.6158A>C (p.Asp2053Ala)
n.9108A>C
c.8744A>C (p.Asp2915Ala)
c.7940A>C (p.Asp2647Ala)
c.7745A>C (p.Asp2582Ala)
n.9157A>C
5g.37125270C>ACA359498583CPLANE1n.1931G>T
c.8932G>T (p.Asp2978Tyr)
n.793G>T
c.8770G>T (p.Asp2924Tyr)
c.5944G>T (n.5944G>T)
n.4113G>T
n.342-3486G>T
c.5968G>T (p.Asp1990Tyr)
c.8929G>T (p.Asp2977Tyr)
c.8821G>T (p.Asp2941Tyr)
c.8803G>T (p.Asp2935Tyr)
c.5575G>T (p.Asp1859Tyr)
c.3505G>T (p.Asp1169Tyr)
c.8878G>T (p.Asp2960Tyr)
c.8824G>T (p.Asp2942Tyr)
c.8614G>T (p.Asp2872Tyr)
c.8260G>T (p.Asp2754Tyr)
c.6157G>T (p.Asp2053Tyr)
n.9107G>T
c.8743G>T (p.Asp2915Tyr)
c.7939G>T (p.Asp2647Tyr)
c.7744G>T (p.Asp2582Tyr)
n.9156G>T
5g.37125270C=CA1539667593CPLANE1n.1931G=
c.8932G= (p.Asp2978=)
n.793G=
c.8770G= (p.Asp2924=)
c.5944G= (n.5944G=)
n.4113G=
n.342-3486G=
c.5968G= (p.Asp1990=)
c.8929G= (p.Asp2977=)
c.8821G= (p.Asp2941=)
c.8803G= (p.Asp2935=)
c.5575G= (p.Asp1859=)
c.3505G= (p.Asp1169=)
c.8878G= (p.Asp2960=)
c.8824G= (p.Asp2942=)
c.8614G= (p.Asp2872=)
c.8260G= (p.Asp2754=)
c.6157G= (p.Asp2053=)
n.9107G=
c.8743G= (p.Asp2915=)
c.7939G= (p.Asp2647=)
c.7744G= (p.Asp2582=)
n.9156G=
5g.37125270C>GCA359498584CPLANE1n.1931G>C
c.8932G>C (p.Asp2978His)
n.793G>C
c.8770G>C (p.Asp2924His)
c.5944G>C (n.5944G>C)
n.4113G>C
n.342-3486G>C
c.5968G>C (p.Asp1990His)
c.8929G>C (p.Asp2977His)
c.8821G>C (p.Asp2941His)
c.8803G>C (p.Asp2935His)
c.5575G>C (p.Asp1859His)
c.3505G>C (p.Asp1169His)
c.8878G>C (p.Asp2960His)
c.8824G>C (p.Asp2942His)
c.8614G>C (p.Asp2872His)
c.8260G>C (p.Asp2754His)
c.6157G>C (p.Asp2053His)
n.9107G>C
c.8743G>C (p.Asp2915His)
c.7939G>C (p.Asp2647His)
c.7744G>C (p.Asp2582His)
n.9156G>C
5g.37125270C>TCA117059132CPLANE1n.1931G>A
c.8932G>A (p.Asp2978Asn)
n.793G>A
c.8770G>A (p.Asp2924Asn)
c.5944G>A (n.5944G>A)
n.4113G>A
n.342-3486G>A
c.5968G>A (p.Asp1990Asn)
c.8929G>A (p.Asp2977Asn)
c.8821G>A (p.Asp2941Asn)
c.8803G>A (p.Asp2935Asn)
c.5575G>A (p.Asp1859Asn)
c.3505G>A (p.Asp1169Asn)
c.8878G>A (p.Asp2960Asn)
c.8824G>A (p.Asp2942Asn)
c.8614G>A (p.Asp2872Asn)
c.8260G>A (p.Asp2754Asn)
c.6157G>A (p.Asp2053Asn)
n.9107G>A
c.8743G>A (p.Asp2915Asn)
c.7939G>A (p.Asp2647Asn)
c.7744G>A (p.Asp2582Asn)
n.9156G>A
 dbSNP gnomAD v4
5g.37125271A=CA1539667595CPLANE1n.1930T=
c.8931T= (p.His2977=)
n.792T=
c.8769T= (p.His2923=)
c.5943T= (n.5943T=)
n.4112T=
n.342-3487T=
c.5967T= (p.His1989=)
c.8928T= (p.His2976=)
c.8820T= (p.His2940=)
c.8802T= (p.His2934=)
c.5574T= (p.His1858=)
c.3504T= (p.His1168=)
c.8877T= (p.His2959=)
c.8823T= (p.His2941=)
c.8613T= (p.His2871=)
c.8259T= (p.His2753=)
c.6156T= (p.His2052=)
n.9106T=
c.8742T= (p.His2914=)
c.7938T= (p.His2646=)
c.7743T= (p.His2581=)
n.9155T=
5g.37125271A>CCA359498585CPLANE1n.1930T>G
c.8931T>G (p.His2977Gln)
n.792T>G
c.8769T>G (p.His2923Gln)
c.5943T>G (n.5943T>G)
n.4112T>G
n.342-3487T>G
c.5967T>G (p.His1989Gln)
c.8928T>G (p.His2976Gln)
c.8820T>G (p.His2940Gln)
c.8802T>G (p.His2934Gln)
c.5574T>G (p.His1858Gln)
c.3504T>G (p.His1168Gln)
c.8877T>G (p.His2959Gln)
c.8823T>G (p.His2941Gln)
c.8613T>G (p.His2871Gln)
c.8259T>G (p.His2753Gln)
c.6156T>G (p.His2052Gln)
n.9106T>G
c.8742T>G (p.His2914Gln)
c.7938T>G (p.His2646Gln)
c.7743T>G (p.His2581Gln)
n.9155T>G
5g.37125271A>GCA443921989CPLANE1n.1930T>C
c.8931T>C (p.His2977=)
n.792T>C
c.8769T>C (p.His2923=)
c.5943T>C (n.5943T>C)
n.4112T>C
n.342-3487T>C
c.5967T>C (p.His1989=)
c.8928T>C (p.His2976=)
c.8820T>C (p.His2940=)
c.8802T>C (p.His2934=)
c.5574T>C (p.His1858=)
c.3504T>C (p.His1168=)
c.8877T>C (p.His2959=)
c.8823T>C (p.His2941=)
c.8613T>C (p.His2871=)
c.8259T>C (p.His2753=)
c.6156T>C (p.His2052=)
n.9106T>C
c.8742T>C (p.His2914=)
c.7938T>C (p.His2646=)
c.7743T>C (p.His2581=)
n.9155T>C
 dbSNP gnomAD v4
5g.37125271A>TCA359498587CPLANE1n.1930T>A
c.8931T>A (p.His2977Gln)
n.792T>A
c.8769T>A (p.His2923Gln)
c.5943T>A (n.5943T>A)
n.4112T>A
n.342-3487T>A
c.5967T>A (p.His1989Gln)
c.8928T>A (p.His2976Gln)
c.8820T>A (p.His2940Gln)
c.8802T>A (p.His2934Gln)
c.5574T>A (p.His1858Gln)
c.3504T>A (p.His1168Gln)
c.8877T>A (p.His2959Gln)
c.8823T>A (p.His2941Gln)
c.8613T>A (p.His2871Gln)
c.8259T>A (p.His2753Gln)
c.6156T>A (p.His2052Gln)
n.9106T>A
c.8742T>A (p.His2914Gln)
c.7938T>A (p.His2646Gln)
c.7743T>A (p.His2581Gln)
n.9155T>A
5g.37125272T>ACA359498600CPLANE1n.1929A>T
c.8930A>T (p.His2977Leu)
n.791A>T
c.8768A>T (p.His2923Leu)
c.5942A>T (n.5942A>T)
n.4111A>T
n.342-3488A>T
c.5966A>T (p.His1989Leu)
c.8927A>T (p.His2976Leu)
c.8819A>T (p.His2940Leu)
c.8801A>T (p.His2934Leu)
c.5573A>T (p.His1858Leu)
c.3503A>T (p.His1168Leu)
c.8876A>T (p.His2959Leu)
c.8822A>T (p.His2941Leu)
c.8612A>T (p.His2871Leu)
c.8258A>T (p.His2753Leu)
c.6155A>T (p.His2052Leu)
n.9105A>T
c.8741A>T (p.His2914Leu)
c.7937A>T (p.His2646Leu)
c.7742A>T (p.His2581Leu)
n.9154A>T
5g.37125272T>CCA3237628CPLANE1n.1929A>G
c.8930A>G (p.His2977Arg)
n.791A>G
c.8768A>G (p.His2923Arg)
c.5942A>G (n.5942A>G)
n.4111A>G
n.342-3488A>G
c.5966A>G (p.His1989Arg)
c.8927A>G (p.His2976Arg)
c.8819A>G (p.His2940Arg)
c.8801A>G (p.His2934Arg)
c.5573A>G (p.His1858Arg)
c.3503A>G (p.His1168Arg)
c.8876A>G (p.His2959Arg)
c.8822A>G (p.His2941Arg)
c.8612A>G (p.His2871Arg)
c.8258A>G (p.His2753Arg)
c.6155A>G (p.His2052Arg)
n.9105A>G
c.8741A>G (p.His2914Arg)
c.7937A>G (p.His2646Arg)
c.7742A>G (p.His2581Arg)
n.9154A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125272T>GCA359498590CPLANE1n.1929A>C
c.8930A>C (p.His2977Pro)
n.791A>C
c.8768A>C (p.His2923Pro)
c.5942A>C (n.5942A>C)
n.4111A>C
n.342-3488A>C
c.5966A>C (p.His1989Pro)
c.8927A>C (p.His2976Pro)
c.8819A>C (p.His2940Pro)
c.8801A>C (p.His2934Pro)
c.5573A>C (p.His1858Pro)
c.3503A>C (p.His1168Pro)
c.8876A>C (p.His2959Pro)
c.8822A>C (p.His2941Pro)
c.8612A>C (p.His2871Pro)
c.8258A>C (p.His2753Pro)
c.6155A>C (p.His2052Pro)
n.9105A>C
c.8741A>C (p.His2914Pro)
c.7937A>C (p.His2646Pro)
c.7742A>C (p.His2581Pro)
n.9154A>C
5g.37125272T=CA1539667597CPLANE1n.1929A=
c.8930A= (p.His2977=)
n.791A=
c.8768A= (p.His2923=)
c.5942A= (n.5942A=)
n.4111A=
n.342-3488A=
c.5966A= (p.His1989=)
c.8927A= (p.His2976=)
c.8819A= (p.His2940=)
c.8801A= (p.His2934=)
c.5573A= (p.His1858=)
c.3503A= (p.His1168=)
c.8876A= (p.His2959=)
c.8822A= (p.His2941=)
c.8612A= (p.His2871=)
c.8258A= (p.His2753=)
c.6155A= (p.His2052=)
n.9105A=
c.8741A= (p.His2914=)
c.7937A= (p.His2646=)
c.7742A= (p.His2581=)
n.9154A=
5g.37125273_37125277delCA2673580097CPLANE1n.1925_1929del
c.8926_8930del (p.Glu2976Ter)
n.787_791del
c.8764_8768del (p.Glu2922Ter)
c.5938_5942del (n.5938_5942del)
n.4107_4111del
n.342-3492_342-3488del
c.5962_5966del (p.Glu1988Ter)
c.8923_8927del (p.Glu2975Ter)
c.8815_8819del (p.Glu2939Ter)
c.8797_8801del (p.Glu2933Ter)
c.5569_5573del (p.Glu1857Ter)
c.3499_3503del (p.Glu1167Ter)
c.8872_8876del (p.Glu2958Ter)
c.8818_8822del (p.Glu2940Ter)
c.8608_8612del (p.Glu2870Ter)
c.8254_8258del (p.Glu2752Ter)
c.6151_6155del (p.Glu2051Ter)
n.9101_9105del
c.8737_8741del (p.Glu2913Ter)
c.7933_7937del (p.Glu2645Ter)
c.7738_7742del (p.Glu2580Ter)
n.9150_9154del
 gnomAD v4
5g.37125273G>ACA3237629CPLANE1n.1928C>T
c.8929C>T (p.His2977Tyr)
n.790C>T
c.8767C>T (p.His2923Tyr)
c.5941C>T (n.5941C>T)
n.4110C>T
n.342-3489C>T
c.5965C>T (p.His1989Tyr)
c.8926C>T (p.His2976Tyr)
c.8818C>T (p.His2940Tyr)
c.8800C>T (p.His2934Tyr)
c.5572C>T (p.His1858Tyr)
c.3502C>T (p.His1168Tyr)
c.8875C>T (p.His2959Tyr)
c.8821C>T (p.His2941Tyr)
c.8611C>T (p.His2871Tyr)
c.8257C>T (p.His2753Tyr)
c.6154C>T (p.His2052Tyr)
n.9104C>T
c.8740C>T (p.His2914Tyr)
c.7936C>T (p.His2646Tyr)
c.7741C>T (p.His2581Tyr)
n.9153C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125273G>CCA359498607CPLANE1n.1928C>G
c.8929C>G (p.His2977Asp)
n.790C>G
c.8767C>G (p.His2923Asp)
c.5941C>G (n.5941C>G)
n.4110C>G
n.342-3489C>G
c.5965C>G (p.His1989Asp)
c.8926C>G (p.His2976Asp)
c.8818C>G (p.His2940Asp)
c.8800C>G (p.His2934Asp)
c.5572C>G (p.His1858Asp)
c.3502C>G (p.His1168Asp)
c.8875C>G (p.His2959Asp)
c.8821C>G (p.His2941Asp)
c.8611C>G (p.His2871Asp)
c.8257C>G (p.His2753Asp)
c.6154C>G (p.His2052Asp)
n.9104C>G
c.8740C>G (p.His2914Asp)
c.7936C>G (p.His2646Asp)
c.7741C>G (p.His2581Asp)
n.9153C>G
5g.37125273G=CA1539667599CPLANE1n.1928C=
c.8929C= (p.His2977=)
n.790C=
c.8767C= (p.His2923=)
c.5941C= (n.5941C=)
n.4110C=
n.342-3489C=
c.5965C= (p.His1989=)
c.8926C= (p.His2976=)
c.8818C= (p.His2940=)
c.8800C= (p.His2934=)
c.5572C= (p.His1858=)
c.3502C= (p.His1168=)
c.8875C= (p.His2959=)
c.8821C= (p.His2941=)
c.8611C= (p.His2871=)
c.8257C= (p.His2753=)
c.6154C= (p.His2052=)
n.9104C=
c.8740C= (p.His2914=)
c.7936C= (p.His2646=)
c.7741C= (p.His2581=)
n.9153C=
5g.37125273G>TCA359498609CPLANE1n.1928C>A
c.8929C>A (p.His2977Asn)
n.790C>A
c.8767C>A (p.His2923Asn)
c.5941C>A (n.5941C>A)
n.4110C>A
n.342-3489C>A
c.5965C>A (p.His1989Asn)
c.8926C>A (p.His2976Asn)
c.8818C>A (p.His2940Asn)
c.8800C>A (p.His2934Asn)
c.5572C>A (p.His1858Asn)
c.3502C>A (p.His1168Asn)
c.8875C>A (p.His2959Asn)
c.8821C>A (p.His2941Asn)
c.8611C>A (p.His2871Asn)
c.8257C>A (p.His2753Asn)
c.6154C>A (p.His2052Asn)
n.9104C>A
c.8740C>A (p.His2914Asn)
c.7936C>A (p.His2646Asn)
c.7741C>A (p.His2581Asn)
n.9153C>A
5g.37125274T>ACA359498612CPLANE1n.1927A>T
c.8928A>T (p.Glu2976Asp)
n.789A>T
c.8766A>T (p.Glu2922Asp)
c.5940A>T (n.5940A>T)
n.4109A>T
n.342-3490A>T
c.5964A>T (p.Glu1988Asp)
c.8925A>T (p.Glu2975Asp)
c.8817A>T (p.Glu2939Asp)
c.8799A>T (p.Glu2933Asp)
c.5571A>T (p.Glu1857Asp)
c.3501A>T (p.Glu1167Asp)
c.8874A>T (p.Glu2958Asp)
c.8820A>T (p.Glu2940Asp)
c.8610A>T (p.Glu2870Asp)
c.8256A>T (p.Glu2752Asp)
c.6153A>T (p.Glu2051Asp)
n.9103A>T
c.8739A>T (p.Glu2913Asp)
c.7935A>T (p.Glu2645Asp)
c.7740A>T (p.Glu2580Asp)
n.9152A>T
5g.37125274T>CCA3237630CPLANE1n.1927A>G
c.8928A>G (p.Glu2976=)
n.789A>G
c.8766A>G (p.Glu2922=)
c.5940A>G (n.5940A>G)
n.4109A>G
n.342-3490A>G
c.5964A>G (p.Glu1988=)
c.8925A>G (p.Glu2975=)
c.8817A>G (p.Glu2939=)
c.8799A>G (p.Glu2933=)
c.5571A>G (p.Glu1857=)
c.3501A>G (p.Glu1167=)
c.8874A>G (p.Glu2958=)
c.8820A>G (p.Glu2940=)
c.8610A>G (p.Glu2870=)
c.8256A>G (p.Glu2752=)
c.6153A>G (p.Glu2051=)
n.9103A>G
c.8739A>G (p.Glu2913=)
c.7935A>G (p.Glu2645=)
c.7740A>G (p.Glu2580=)
n.9152A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125274T>GCA359498615CPLANE1n.1927A>C
c.8928A>C (p.Glu2976Asp)
n.789A>C
c.8766A>C (p.Glu2922Asp)
c.5940A>C (n.5940A>C)
n.4109A>C
n.342-3490A>C
c.5964A>C (p.Glu1988Asp)
c.8925A>C (p.Glu2975Asp)
c.8817A>C (p.Glu2939Asp)
c.8799A>C (p.Glu2933Asp)
c.5571A>C (p.Glu1857Asp)
c.3501A>C (p.Glu1167Asp)
c.8874A>C (p.Glu2958Asp)
c.8820A>C (p.Glu2940Asp)
c.8610A>C (p.Glu2870Asp)
c.8256A>C (p.Glu2752Asp)
c.6153A>C (p.Glu2051Asp)
n.9103A>C
c.8739A>C (p.Glu2913Asp)
c.7935A>C (p.Glu2645Asp)
c.7740A>C (p.Glu2580Asp)
n.9152A>C
5g.37125274T=CA1539667601CPLANE1n.1927A=
c.8928A= (p.Glu2976=)
n.789A=
c.8766A= (p.Glu2922=)
c.5940A= (n.5940A=)
n.4109A=
n.342-3490A=
c.5964A= (p.Glu1988=)
c.8925A= (p.Glu2975=)
c.8817A= (p.Glu2939=)
c.8799A= (p.Glu2933=)
c.5571A= (p.Glu1857=)
c.3501A= (p.Glu1167=)
c.8874A= (p.Glu2958=)
c.8820A= (p.Glu2940=)
c.8610A= (p.Glu2870=)
c.8256A= (p.Glu2752=)
c.6153A= (p.Glu2051=)
n.9103A=
c.8739A= (p.Glu2913=)
c.7935A= (p.Glu2645=)
c.7740A= (p.Glu2580=)
n.9152A=
5g.37125275T>ACA359498621CPLANE1n.1926A>T
c.8927A>T (p.Glu2976Val)
n.788A>T
c.8765A>T (p.Glu2922Val)
c.5939A>T (n.5939A>T)
n.4108A>T
n.342-3491A>T
c.5963A>T (p.Glu1988Val)
c.8924A>T (p.Glu2975Val)
c.8816A>T (p.Glu2939Val)
c.8798A>T (p.Glu2933Val)
c.5570A>T (p.Glu1857Val)
c.3500A>T (p.Glu1167Val)
c.8873A>T (p.Glu2958Val)
c.8819A>T (p.Glu2940Val)
c.8609A>T (p.Glu2870Val)
c.8255A>T (p.Glu2752Val)
c.6152A>T (p.Glu2051Val)
n.9102A>T
c.8738A>T (p.Glu2913Val)
c.7934A>T (p.Glu2645Val)
c.7739A>T (p.Glu2580Val)
n.9151A>T
5g.37125275T>CCA359498622CPLANE1n.1926A>G
c.8927A>G (p.Glu2976Gly)
n.788A>G
c.8765A>G (p.Glu2922Gly)
c.5939A>G (n.5939A>G)
n.4108A>G
n.342-3491A>G
c.5963A>G (p.Glu1988Gly)
c.8924A>G (p.Glu2975Gly)
c.8816A>G (p.Glu2939Gly)
c.8798A>G (p.Glu2933Gly)
c.5570A>G (p.Glu1857Gly)
c.3500A>G (p.Glu1167Gly)
c.8873A>G (p.Glu2958Gly)
c.8819A>G (p.Glu2940Gly)
c.8609A>G (p.Glu2870Gly)
c.8255A>G (p.Glu2752Gly)
c.6152A>G (p.Glu2051Gly)
n.9102A>G
c.8738A>G (p.Glu2913Gly)
c.7934A>G (p.Glu2645Gly)
c.7739A>G (p.Glu2580Gly)
n.9151A>G
5g.37125275T>GCA359498623CPLANE1n.1926A>C
c.8927A>C (p.Glu2976Ala)
n.788A>C
c.8765A>C (p.Glu2922Ala)
c.5939A>C (n.5939A>C)
n.4108A>C
n.342-3491A>C
c.5963A>C (p.Glu1988Ala)
c.8924A>C (p.Glu2975Ala)
c.8816A>C (p.Glu2939Ala)
c.8798A>C (p.Glu2933Ala)
c.5570A>C (p.Glu1857Ala)
c.3500A>C (p.Glu1167Ala)
c.8873A>C (p.Glu2958Ala)
c.8819A>C (p.Glu2940Ala)
c.8609A>C (p.Glu2870Ala)
c.8255A>C (p.Glu2752Ala)
c.6152A>C (p.Glu2051Ala)
n.9102A>C
c.8738A>C (p.Glu2913Ala)
c.7934A>C (p.Glu2645Ala)
c.7739A>C (p.Glu2580Ala)
n.9151A>C
5g.37125276C>ACA359498625CPLANE1n.1925G>T
c.8926G>T (p.Glu2976Ter)
n.787G>T
c.8764G>T (p.Glu2922Ter)
c.5938G>T (n.5938G>T)
n.4107G>T
n.342-3492G>T
c.5962G>T (p.Glu1988Ter)
c.8923G>T (p.Glu2975Ter)
c.8815G>T (p.Glu2939Ter)
c.8797G>T (p.Glu2933Ter)
c.5569G>T (p.Glu1857Ter)
c.3499G>T (p.Glu1167Ter)
c.8872G>T (p.Glu2958Ter)
c.8818G>T (p.Glu2940Ter)
c.8608G>T (p.Glu2870Ter)
c.8254G>T (p.Glu2752Ter)
c.6151G>T (p.Glu2051Ter)
n.9101G>T
c.8737G>T (p.Glu2913Ter)
c.7933G>T (p.Glu2645Ter)
c.7738G>T (p.Glu2580Ter)
n.9150G>T
5g.37125276C=CA1539667604CPLANE1n.1925G=
c.8926G= (p.Glu2976=)
n.787G=
c.8764G= (p.Glu2922=)
c.5938G= (n.5938G=)
n.4107G=
n.342-3492G=
c.5962G= (p.Glu1988=)
c.8923G= (p.Glu2975=)
c.8815G= (p.Glu2939=)
c.8797G= (p.Glu2933=)
c.5569G= (p.Glu1857=)
c.3499G= (p.Glu1167=)
c.8872G= (p.Glu2958=)
c.8818G= (p.Glu2940=)
c.8608G= (p.Glu2870=)
c.8254G= (p.Glu2752=)
c.6151G= (p.Glu2051=)
n.9101G=
c.8737G= (p.Glu2913=)
c.7933G= (p.Glu2645=)
c.7738G= (p.Glu2580=)
n.9150G=
5g.37125276C>GCA359498629CPLANE1n.1925G>C
c.8926G>C (p.Glu2976Gln)
n.787G>C
c.8764G>C (p.Glu2922Gln)
c.5938G>C (n.5938G>C)
n.4107G>C
n.342-3492G>C
c.5962G>C (p.Glu1988Gln)
c.8923G>C (p.Glu2975Gln)
c.8815G>C (p.Glu2939Gln)
c.8797G>C (p.Glu2933Gln)
c.5569G>C (p.Glu1857Gln)
c.3499G>C (p.Glu1167Gln)
c.8872G>C (p.Glu2958Gln)
c.8818G>C (p.Glu2940Gln)
c.8608G>C (p.Glu2870Gln)
c.8254G>C (p.Glu2752Gln)
c.6151G>C (p.Glu2051Gln)
n.9101G>C
c.8737G>C (p.Glu2913Gln)
c.7933G>C (p.Glu2645Gln)
c.7738G>C (p.Glu2580Gln)
n.9150G>C
5g.37125276C>TCA359498634CPLANE1n.1925G>A
c.8926G>A (p.Glu2976Lys)
n.787G>A
c.8764G>A (p.Glu2922Lys)
c.5938G>A (n.5938G>A)
n.4107G>A
n.342-3492G>A
c.5962G>A (p.Glu1988Lys)
c.8923G>A (p.Glu2975Lys)
c.8815G>A (p.Glu2939Lys)
c.8797G>A (p.Glu2933Lys)
c.5569G>A (p.Glu1857Lys)
c.3499G>A (p.Glu1167Lys)
c.8872G>A (p.Glu2958Lys)
c.8818G>A (p.Glu2940Lys)
c.8608G>A (p.Glu2870Lys)
c.8254G>A (p.Glu2752Lys)
c.6151G>A (p.Glu2051Lys)
n.9101G>A
c.8737G>A (p.Glu2913Lys)
c.7933G>A (p.Glu2645Lys)
c.7738G>A (p.Glu2580Lys)
n.9150G>A
 dbSNP gnomAD v2 gnomAD v4
5g.37125277T>ACA359498641CPLANE1n.1924A>T
c.8925A>T (p.Gln2975His)
n.786A>T
c.8763A>T (p.Gln2921His)
c.5937A>T (n.5937A>T)
n.4106A>T
n.342-3493A>T
c.5961A>T (p.Gln1987His)
c.8922A>T (p.Gln2974His)
c.8814A>T (p.Gln2938His)
c.8796A>T (p.Gln2932His)
c.5568A>T (p.Gln1856His)
c.3498A>T (p.Gln1166His)
c.8871A>T (p.Gln2957His)
c.8817A>T (p.Gln2939His)
c.8607A>T (p.Gln2869His)
c.8253A>T (p.Gln2751His)
c.6150A>T (p.Gln2050His)
n.9100A>T
c.8736A>T (p.Gln2912His)
c.7932A>T (p.Gln2644His)
c.7737A>T (p.Gln2579His)
n.9149A>T
5g.37125277T>CCA443921990CPLANE1n.1924A>G
c.8925A>G (p.Gln2975=)
n.786A>G
c.8763A>G (p.Gln2921=)
c.5937A>G (n.5937A>G)
n.4106A>G
n.342-3493A>G
c.5961A>G (p.Gln1987=)
c.8922A>G (p.Gln2974=)
c.8814A>G (p.Gln2938=)
c.8796A>G (p.Gln2932=)
c.5568A>G (p.Gln1856=)
c.3498A>G (p.Gln1166=)
c.8871A>G (p.Gln2957=)
c.8817A>G (p.Gln2939=)
c.8607A>G (p.Gln2869=)
c.8253A>G (p.Gln2751=)
c.6150A>G (p.Gln2050=)
n.9100A>G
c.8736A>G (p.Gln2912=)
c.7932A>G (p.Gln2644=)
c.7737A>G (p.Gln2579=)
n.9149A>G
5g.37125277T>GCA359498638CPLANE1n.1924A>C
c.8925A>C (p.Gln2975His)
n.786A>C
c.8763A>C (p.Gln2921His)
c.5937A>C (n.5937A>C)
n.4106A>C
n.342-3493A>C
c.5961A>C (p.Gln1987His)
c.8922A>C (p.Gln2974His)
c.8814A>C (p.Gln2938His)
c.8796A>C (p.Gln2932His)
c.5568A>C (p.Gln1856His)
c.3498A>C (p.Gln1166His)
c.8871A>C (p.Gln2957His)
c.8817A>C (p.Gln2939His)
c.8607A>C (p.Gln2869His)
c.8253A>C (p.Gln2751His)
c.6150A>C (p.Gln2050His)
n.9100A>C
c.8736A>C (p.Gln2912His)
c.7932A>C (p.Gln2644His)
c.7737A>C (p.Gln2579His)
n.9149A>C
5g.37125278T>ACA359498642CPLANE1n.1923A>T
c.8924A>T (p.Gln2975Leu)
n.785A>T
c.8762A>T (p.Gln2921Leu)
c.5936A>T (n.5936A>T)
n.4105A>T
n.342-3494A>T
c.5960A>T (p.Gln1987Leu)
c.8921A>T (p.Gln2974Leu)
c.8813A>T (p.Gln2938Leu)
c.8795A>T (p.Gln2932Leu)
c.5567A>T (p.Gln1856Leu)
c.3497A>T (p.Gln1166Leu)
c.8870A>T (p.Gln2957Leu)
c.8816A>T (p.Gln2939Leu)
c.8606A>T (p.Gln2869Leu)
c.8252A>T (p.Gln2751Leu)
c.6149A>T (p.Gln2050Leu)
n.9099A>T
c.8735A>T (p.Gln2912Leu)
c.7931A>T (p.Gln2644Leu)
c.7736A>T (p.Gln2579Leu)
n.9148A>T
5g.37125278T>CCA117059156CPLANE1n.1923A>G
c.8924A>G (p.Gln2975Arg)
n.785A>G
c.8762A>G (p.Gln2921Arg)
c.5936A>G (n.5936A>G)
n.4105A>G
n.342-3494A>G
c.5960A>G (p.Gln1987Arg)
c.8921A>G (p.Gln2974Arg)
c.8813A>G (p.Gln2938Arg)
c.8795A>G (p.Gln2932Arg)
c.5567A>G (p.Gln1856Arg)
c.3497A>G (p.Gln1166Arg)
c.8870A>G (p.Gln2957Arg)
c.8816A>G (p.Gln2939Arg)
c.8606A>G (p.Gln2869Arg)
c.8252A>G (p.Gln2751Arg)
c.6149A>G (p.Gln2050Arg)
n.9099A>G
c.8735A>G (p.Gln2912Arg)
c.7931A>G (p.Gln2644Arg)
c.7736A>G (p.Gln2579Arg)
n.9148A>G
 ClinVar dbSNP gnomAD v4
5g.37125278T>GCA359498648CPLANE1n.1923A>C
c.8924A>C (p.Gln2975Pro)
n.785A>C
c.8762A>C (p.Gln2921Pro)
c.5936A>C (n.5936A>C)
n.4105A>C
n.342-3494A>C
c.5960A>C (p.Gln1987Pro)
c.8921A>C (p.Gln2974Pro)
c.8813A>C (p.Gln2938Pro)
c.8795A>C (p.Gln2932Pro)
c.5567A>C (p.Gln1856Pro)
c.3497A>C (p.Gln1166Pro)
c.8870A>C (p.Gln2957Pro)
c.8816A>C (p.Gln2939Pro)
c.8606A>C (p.Gln2869Pro)
c.8252A>C (p.Gln2751Pro)
c.6149A>C (p.Gln2050Pro)
n.9099A>C
c.8735A>C (p.Gln2912Pro)
c.7931A>C (p.Gln2644Pro)
c.7736A>C (p.Gln2579Pro)
n.9148A>C
5g.37125278T=CA1539667605CPLANE1n.1923A=
c.8924A= (p.Gln2975=)
n.785A=
c.8762A= (p.Gln2921=)
c.5936A= (n.5936A=)
n.4105A=
n.342-3494A=
c.5960A= (p.Gln1987=)
c.8921A= (p.Gln2974=)
c.8813A= (p.Gln2938=)
c.8795A= (p.Gln2932=)
c.5567A= (p.Gln1856=)
c.3497A= (p.Gln1166=)
c.8870A= (p.Gln2957=)
c.8816A= (p.Gln2939=)
c.8606A= (p.Gln2869=)
c.8252A= (p.Gln2751=)
c.6149A= (p.Gln2050=)
n.9099A=
c.8735A= (p.Gln2912=)
c.7931A= (p.Gln2644=)
c.7736A= (p.Gln2579=)
n.9148A=
5g.37125279G>ACA359498651CPLANE1n.1922C>T
c.8923C>T (p.Gln2975Ter)
n.784C>T
c.8761C>T (p.Gln2921Ter)
c.5935C>T (n.5935C>T)
n.4104C>T
n.342-3495C>T
c.5959C>T (p.Gln1987Ter)
c.8920C>T (p.Gln2974Ter)
c.8812C>T (p.Gln2938Ter)
c.8794C>T (p.Gln2932Ter)
c.5566C>T (p.Gln1856Ter)
c.3496C>T (p.Gln1166Ter)
c.8869C>T (p.Gln2957Ter)
c.8815C>T (p.Gln2939Ter)
c.8605C>T (p.Gln2869Ter)
c.8251C>T (p.Gln2751Ter)
c.6148C>T (p.Gln2050Ter)
n.9098C>T
c.8734C>T (p.Gln2912Ter)
c.7930C>T (p.Gln2644Ter)
c.7735C>T (p.Gln2579Ter)
n.9147C>T
5g.37125279G>CCA359498656CPLANE1n.1922C>G
c.8923C>G (p.Gln2975Glu)
n.784C>G
c.8761C>G (p.Gln2921Glu)
c.5935C>G (n.5935C>G)
n.4104C>G
n.342-3495C>G
c.5959C>G (p.Gln1987Glu)
c.8920C>G (p.Gln2974Glu)
c.8812C>G (p.Gln2938Glu)
c.8794C>G (p.Gln2932Glu)
c.5566C>G (p.Gln1856Glu)
c.3496C>G (p.Gln1166Glu)
c.8869C>G (p.Gln2957Glu)
c.8815C>G (p.Gln2939Glu)
c.8605C>G (p.Gln2869Glu)
c.8251C>G (p.Gln2751Glu)
c.6148C>G (p.Gln2050Glu)
n.9098C>G
c.8734C>G (p.Gln2912Glu)
c.7930C>G (p.Gln2644Glu)
c.7735C>G (p.Gln2579Glu)
n.9147C>G
5g.37125279G>TCA359498662CPLANE1n.1922C>A
c.8923C>A (p.Gln2975Lys)
n.784C>A
c.8761C>A (p.Gln2921Lys)
c.5935C>A (n.5935C>A)
n.4104C>A
n.342-3495C>A
c.5959C>A (p.Gln1987Lys)
c.8920C>A (p.Gln2974Lys)
c.8812C>A (p.Gln2938Lys)
c.8794C>A (p.Gln2932Lys)
c.5566C>A (p.Gln1856Lys)
c.3496C>A (p.Gln1166Lys)
c.8869C>A (p.Gln2957Lys)
c.8815C>A (p.Gln2939Lys)
c.8605C>A (p.Gln2869Lys)
c.8251C>A (p.Gln2751Lys)
c.6148C>A (p.Gln2050Lys)
n.9098C>A
c.8734C>A (p.Gln2912Lys)
c.7930C>A (p.Gln2644Lys)
c.7735C>A (p.Gln2579Lys)
n.9147C>A
5g.37125280C>ACA3237631CPLANE1n.1921G>T
c.8922G>T (p.Gly2974=)
n.783G>T
c.8760G>T (p.Gly2920=)
c.5934G>T (n.5934G>T)
n.4103G>T
n.342-3496G>T
c.5958G>T (p.Gly1986=)
c.8919G>T (p.Gly2973=)
c.8811G>T (p.Gly2937=)
c.8793G>T (p.Gly2931=)
c.5565G>T (p.Gly1855=)
c.3495G>T (p.Gly1165=)
c.8868G>T (p.Gly2956=)
c.8814G>T (p.Gly2938=)
c.8604G>T (p.Gly2868=)
c.8250G>T (p.Gly2750=)
c.6147G>T (p.Gly2049=)
n.9097G>T
c.8733G>T (p.Gly2911=)
c.7929G>T (p.Gly2643=)
c.7734G>T (p.Gly2578=)
n.9146G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37125280C=CA1539667607CPLANE1n.1921G=
c.8922G= (p.Gly2974=)
n.783G=
c.8760G= (p.Gly2920=)
c.5934G= (n.5934G=)
n.4103G=
n.342-3496G=
c.5958G= (p.Gly1986=)
c.8919G= (p.Gly2973=)
c.8811G= (p.Gly2937=)
c.8793G= (p.Gly2931=)
c.5565G= (p.Gly1855=)
c.3495G= (p.Gly1165=)
c.8868G= (p.Gly2956=)
c.8814G= (p.Gly2938=)
c.8604G= (p.Gly2868=)
c.8250G= (p.Gly2750=)
c.6147G= (p.Gly2049=)
n.9097G=
c.8733G= (p.Gly2911=)
c.7929G= (p.Gly2643=)
c.7734G= (p.Gly2578=)
n.9146G=
5g.37125280C>GCA3237632CPLANE1n.1921G>C
c.8922G>C (p.Gly2974=)
n.783G>C
c.8760G>C (p.Gly2920=)
c.5934G>C (n.5934G>C)
n.4103G>C
n.342-3496G>C
c.5958G>C (p.Gly1986=)
c.8919G>C (p.Gly2973=)
c.8811G>C (p.Gly2937=)
c.8793G>C (p.Gly2931=)
c.5565G>C (p.Gly1855=)
c.3495G>C (p.Gly1165=)
c.8868G>C (p.Gly2956=)
c.8814G>C (p.Gly2938=)
c.8604G>C (p.Gly2868=)
c.8250G>C (p.Gly2750=)
c.6147G>C (p.Gly2049=)
n.9097G>C
c.8733G>C (p.Gly2911=)
c.7929G>C (p.Gly2643=)
c.7734G>C (p.Gly2578=)
n.9146G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125280C>TCA443921991CPLANE1n.1921G>A
c.8922G>A (p.Gly2974=)
n.783G>A
c.8760G>A (p.Gly2920=)
c.5934G>A (n.5934G>A)
n.4103G>A
n.342-3496G>A
c.5958G>A (p.Gly1986=)
c.8919G>A (p.Gly2973=)
c.8811G>A (p.Gly2937=)
c.8793G>A (p.Gly2931=)
c.5565G>A (p.Gly1855=)
c.3495G>A (p.Gly1165=)
c.8868G>A (p.Gly2956=)
c.8814G>A (p.Gly2938=)
c.8604G>A (p.Gly2868=)
c.8250G>A (p.Gly2750=)
c.6147G>A (p.Gly2049=)
n.9097G>A
c.8733G>A (p.Gly2911=)
c.7929G>A (p.Gly2643=)
c.7734G>A (p.Gly2578=)
n.9146G>A
 gnomAD v4
5g.37125281C>ACA359498672CPLANE1n.1920G>T
c.8921G>T (p.Gly2974Val)
n.782G>T
c.8759G>T (p.Gly2920Val)
c.5933G>T (n.5933G>T)
n.4102G>T
n.342-3497G>T
c.5957G>T (p.Gly1986Val)
c.8918G>T (p.Gly2973Val)
c.8810G>T (p.Gly2937Val)
c.8792G>T (p.Gly2931Val)
c.5564G>T (p.Gly1855Val)
c.3494G>T (p.Gly1165Val)
c.8867G>T (p.Gly2956Val)
c.8813G>T (p.Gly2938Val)
c.8603G>T (p.Gly2868Val)
c.8249G>T (p.Gly2750Val)
c.6146G>T (p.Gly2049Val)
n.9096G>T
c.8732G>T (p.Gly2911Val)
c.7928G>T (p.Gly2643Val)
c.7733G>T (p.Gly2578Val)
n.9145G>T
 dbSNP gnomAD v2
5g.37125281C=CA1539667612CPLANE1n.1920G=
c.8921G= (p.Gly2974=)
n.782G=
c.8759G= (p.Gly2920=)
c.5933G= (n.5933G=)
n.4102G=
n.342-3497G=
c.5957G= (p.Gly1986=)
c.8918G= (p.Gly2973=)
c.8810G= (p.Gly2937=)
c.8792G= (p.Gly2931=)
c.5564G= (p.Gly1855=)
c.3494G= (p.Gly1165=)
c.8867G= (p.Gly2956=)
c.8813G= (p.Gly2938=)
c.8603G= (p.Gly2868=)
c.8249G= (p.Gly2750=)
c.6146G= (p.Gly2049=)
n.9096G=
c.8732G= (p.Gly2911=)
c.7928G= (p.Gly2643=)
c.7733G= (p.Gly2578=)
n.9145G=
5g.37125281C>GCA359498675CPLANE1n.1920G>C
c.8921G>C (p.Gly2974Ala)
n.782G>C
c.8759G>C (p.Gly2920Ala)
c.5933G>C (n.5933G>C)
n.4102G>C
n.342-3497G>C
c.5957G>C (p.Gly1986Ala)
c.8918G>C (p.Gly2973Ala)
c.8810G>C (p.Gly2937Ala)
c.8792G>C (p.Gly2931Ala)
c.5564G>C (p.Gly1855Ala)
c.3494G>C (p.Gly1165Ala)
c.8867G>C (p.Gly2956Ala)
c.8813G>C (p.Gly2938Ala)
c.8603G>C (p.Gly2868Ala)
c.8249G>C (p.Gly2750Ala)
c.6146G>C (p.Gly2049Ala)
n.9096G>C
c.8732G>C (p.Gly2911Ala)
c.7928G>C (p.Gly2643Ala)
c.7733G>C (p.Gly2578Ala)
n.9145G>C
5g.37125281C>TCA117059185CPLANE1n.1920G>A
c.8921G>A (p.Gly2974Glu)
n.782G>A
c.8759G>A (p.Gly2920Glu)
c.5933G>A (n.5933G>A)
n.4102G>A
n.342-3497G>A
c.5957G>A (p.Gly1986Glu)
c.8918G>A (p.Gly2973Glu)
c.8810G>A (p.Gly2937Glu)
c.8792G>A (p.Gly2931Glu)
c.5564G>A (p.Gly1855Glu)
c.3494G>A (p.Gly1165Glu)
c.8867G>A (p.Gly2956Glu)
c.8813G>A (p.Gly2938Glu)
c.8603G>A (p.Gly2868Glu)
c.8249G>A (p.Gly2750Glu)
c.6146G>A (p.Gly2049Glu)
n.9096G>A
c.8732G>A (p.Gly2911Glu)
c.7928G>A (p.Gly2643Glu)
c.7733G>A (p.Gly2578Glu)
n.9145G>A
 ClinVar dbSNP gnomAD v4
5g.37125282C>ACA359498688CPLANE1n.1919G>T
c.8920G>T (p.Gly2974Trp)
n.781G>T
c.8758G>T (p.Gly2920Trp)
c.5932G>T (n.5932G>T)
n.4101G>T
n.342-3498G>T
c.5956G>T (p.Gly1986Trp)
c.8917G>T (p.Gly2973Trp)
c.8809G>T (p.Gly2937Trp)
c.8791G>T (p.Gly2931Trp)
c.5563G>T (p.Gly1855Trp)
c.3493G>T (p.Gly1165Trp)
c.8866G>T (p.Gly2956Trp)
c.8812G>T (p.Gly2938Trp)
c.8602G>T (p.Gly2868Trp)
c.8248G>T (p.Gly2750Trp)
c.6145G>T (p.Gly2049Trp)
n.9095G>T
c.8731G>T (p.Gly2911Trp)
c.7927G>T (p.Gly2643Trp)
c.7732G>T (p.Gly2578Trp)
n.9144G>T
5g.37125282C>GCA359498702CPLANE1n.1919G>C
c.8920G>C (p.Gly2974Arg)
n.781G>C
c.8758G>C (p.Gly2920Arg)
c.5932G>C (n.5932G>C)
n.4101G>C
n.342-3498G>C
c.5956G>C (p.Gly1986Arg)
c.8917G>C (p.Gly2973Arg)
c.8809G>C (p.Gly2937Arg)
c.8791G>C (p.Gly2931Arg)
c.5563G>C (p.Gly1855Arg)
c.3493G>C (p.Gly1165Arg)
c.8866G>C (p.Gly2956Arg)
c.8812G>C (p.Gly2938Arg)
c.8602G>C (p.Gly2868Arg)
c.8248G>C (p.Gly2750Arg)
c.6145G>C (p.Gly2049Arg)
n.9095G>C
c.8731G>C (p.Gly2911Arg)
c.7927G>C (p.Gly2643Arg)
c.7732G>C (p.Gly2578Arg)
n.9144G>C
5g.37125282C>TCA359498705CPLANE1n.1919G>A
c.8920G>A (p.Gly2974Arg)
n.781G>A
c.8758G>A (p.Gly2920Arg)
c.5932G>A (n.5932G>A)
n.4101G>A
n.342-3498G>A
c.5956G>A (p.Gly1986Arg)
c.8917G>A (p.Gly2973Arg)
c.8809G>A (p.Gly2937Arg)
c.8791G>A (p.Gly2931Arg)
c.5563G>A (p.Gly1855Arg)
c.3493G>A (p.Gly1165Arg)
c.8866G>A (p.Gly2956Arg)
c.8812G>A (p.Gly2938Arg)
c.8602G>A (p.Gly2868Arg)
c.8248G>A (p.Gly2750Arg)
c.6145G>A (p.Gly2049Arg)
n.9095G>A
c.8731G>A (p.Gly2911Arg)
c.7927G>A (p.Gly2643Arg)
c.7732G>A (p.Gly2578Arg)
n.9144G>A
5g.37125283T>ACA359498708CPLANE1n.1918A>T
c.8919A>T (p.Arg2973Ser)
n.780A>T
c.8757A>T (p.Arg2919Ser)
c.5931A>T (n.5931A>T)
n.4100A>T
n.342-3499A>T
c.5955A>T (p.Arg1985Ser)
c.8916A>T (p.Arg2972Ser)
c.8808A>T (p.Arg2936Ser)
c.8790A>T (p.Arg2930Ser)
c.5562A>T (p.Arg1854Ser)
c.3492A>T (p.Arg1164Ser)
c.8865A>T (p.Arg2955Ser)
c.8811A>T (p.Arg2937Ser)
c.8601A>T (p.Arg2867Ser)
c.8247A>T (p.Arg2749Ser)
c.6144A>T (p.Arg2048Ser)
n.9094A>T
c.8730A>T (p.Arg2910Ser)
c.7926A>T (p.Arg2642Ser)
c.7731A>T (p.Arg2577Ser)
n.9143A>T
5g.37125283T>CCA443921992CPLANE1n.1918A>G
c.8919A>G (p.Arg2973=)
n.780A>G
c.8757A>G (p.Arg2919=)
c.5931A>G (n.5931A>G)
n.4100A>G
n.342-3499A>G
c.5955A>G (p.Arg1985=)
c.8916A>G (p.Arg2972=)
c.8808A>G (p.Arg2936=)
c.8790A>G (p.Arg2930=)
c.5562A>G (p.Arg1854=)
c.3492A>G (p.Arg1164=)
c.8865A>G (p.Arg2955=)
c.8811A>G (p.Arg2937=)
c.8601A>G (p.Arg2867=)
c.8247A>G (p.Arg2749=)
c.6144A>G (p.Arg2048=)
n.9094A>G
c.8730A>G (p.Arg2910=)
c.7926A>G (p.Arg2642=)
c.7731A>G (p.Arg2577=)
n.9143A>G
5g.37125283T>GCA359498717CPLANE1n.1918A>C
c.8919A>C (p.Arg2973Ser)
n.780A>C
c.8757A>C (p.Arg2919Ser)
c.5931A>C (n.5931A>C)
n.4100A>C
n.342-3499A>C
c.5955A>C (p.Arg1985Ser)
c.8916A>C (p.Arg2972Ser)
c.8808A>C (p.Arg2936Ser)
c.8790A>C (p.Arg2930Ser)
c.5562A>C (p.Arg1854Ser)
c.3492A>C (p.Arg1164Ser)
c.8865A>C (p.Arg2955Ser)
c.8811A>C (p.Arg2937Ser)
c.8601A>C (p.Arg2867Ser)
c.8247A>C (p.Arg2749Ser)
c.6144A>C (p.Arg2048Ser)
n.9094A>C
c.8730A>C (p.Arg2910Ser)
c.7926A>C (p.Arg2642Ser)
c.7731A>C (p.Arg2577Ser)
n.9143A>C
5g.37125284C>ACA359498733CPLANE1n.1917G>T
c.8918G>T (p.Arg2973Ile)
n.779G>T
c.8756G>T (p.Arg2919Ile)
c.5930G>T (n.5930G>T)
n.4099G>T
n.342-3500G>T
c.5954G>T (p.Arg1985Ile)
c.8915G>T (p.Arg2972Ile)
c.8807G>T (p.Arg2936Ile)
c.8789G>T (p.Arg2930Ile)
c.5561G>T (p.Arg1854Ile)
c.3491G>T (p.Arg1164Ile)
c.8864G>T (p.Arg2955Ile)
c.8810G>T (p.Arg2937Ile)
c.8600G>T (p.Arg2867Ile)
c.8246G>T (p.Arg2749Ile)
c.6143G>T (p.Arg2048Ile)
n.9093G>T
c.8729G>T (p.Arg2910Ile)
c.7925G>T (p.Arg2642Ile)
c.7730G>T (p.Arg2577Ile)
n.9142G>T
5g.37125284C>GCA359498734CPLANE1n.1917G>C
c.8918G>C (p.Arg2973Thr)
n.779G>C
c.8756G>C (p.Arg2919Thr)
c.5930G>C (n.5930G>C)
n.4099G>C
n.342-3500G>C
c.5954G>C (p.Arg1985Thr)
c.8915G>C (p.Arg2972Thr)
c.8807G>C (p.Arg2936Thr)
c.8789G>C (p.Arg2930Thr)
c.5561G>C (p.Arg1854Thr)
c.3491G>C (p.Arg1164Thr)
c.8864G>C (p.Arg2955Thr)
c.8810G>C (p.Arg2937Thr)
c.8600G>C (p.Arg2867Thr)
c.8246G>C (p.Arg2749Thr)
c.6143G>C (p.Arg2048Thr)
n.9093G>C
c.8729G>C (p.Arg2910Thr)
c.7925G>C (p.Arg2642Thr)
c.7730G>C (p.Arg2577Thr)
n.9142G>C
5g.37125284C>TCA359498743CPLANE1n.1917G>A
c.8918G>A (p.Arg2973Lys)
n.779G>A
c.8756G>A (p.Arg2919Lys)
c.5930G>A (n.5930G>A)
n.4099G>A
n.342-3500G>A
c.5954G>A (p.Arg1985Lys)
c.8915G>A (p.Arg2972Lys)
c.8807G>A (p.Arg2936Lys)
c.8789G>A (p.Arg2930Lys)
c.5561G>A (p.Arg1854Lys)
c.3491G>A (p.Arg1164Lys)
c.8864G>A (p.Arg2955Lys)
c.8810G>A (p.Arg2937Lys)
c.8600G>A (p.Arg2867Lys)
c.8246G>A (p.Arg2749Lys)
c.6143G>A (p.Arg2048Lys)
n.9093G>A
c.8729G>A (p.Arg2910Lys)
c.7925G>A (p.Arg2642Lys)
c.7730G>A (p.Arg2577Lys)
n.9142G>A
5g.37125285T>ACA359498746CPLANE1n.1916A>T
c.8917A>T (p.Arg2973Ter)
n.778A>T
c.8755A>T (p.Arg2919Ter)
c.5929A>T (n.5929A>T)
n.4098A>T
n.342-3501A>T
c.5953A>T (p.Arg1985Ter)
c.8914A>T (p.Arg2972Ter)
c.8806A>T (p.Arg2936Ter)
c.8788A>T (p.Arg2930Ter)
c.5560A>T (p.Arg1854Ter)
c.3490A>T (p.Arg1164Ter)
c.8863A>T (p.Arg2955Ter)
c.8809A>T (p.Arg2937Ter)
c.8599A>T (p.Arg2867Ter)
c.8245A>T (p.Arg2749Ter)
c.6142A>T (p.Arg2048Ter)
n.9092A>T
c.8728A>T (p.Arg2910Ter)
c.7924A>T (p.Arg2642Ter)
c.7729A>T (p.Arg2577Ter)
n.9141A>T
5g.37125285T>CCA359498749CPLANE1n.1916A>G
c.8917A>G (p.Arg2973Gly)
n.778A>G
c.8755A>G (p.Arg2919Gly)
c.5929A>G (n.5929A>G)
n.4098A>G
n.342-3501A>G
c.5953A>G (p.Arg1985Gly)
c.8914A>G (p.Arg2972Gly)
c.8806A>G (p.Arg2936Gly)
c.8788A>G (p.Arg2930Gly)
c.5560A>G (p.Arg1854Gly)
c.3490A>G (p.Arg1164Gly)
c.8863A>G (p.Arg2955Gly)
c.8809A>G (p.Arg2937Gly)
c.8599A>G (p.Arg2867Gly)
c.8245A>G (p.Arg2749Gly)
c.6142A>G (p.Arg2048Gly)
n.9092A>G
c.8728A>G (p.Arg2910Gly)
c.7924A>G (p.Arg2642Gly)
c.7729A>G (p.Arg2577Gly)
n.9141A>G
5g.37125285T>GCA443921993CPLANE1n.1916A>C
c.8917A>C (p.Arg2973=)
n.778A>C
c.8755A>C (p.Arg2919=)
c.5929A>C (n.5929A>C)
n.4098A>C
n.342-3501A>C
c.5953A>C (p.Arg1985=)
c.8914A>C (p.Arg2972=)
c.8806A>C (p.Arg2936=)
c.8788A>C (p.Arg2930=)
c.5560A>C (p.Arg1854=)
c.3490A>C (p.Arg1164=)
c.8863A>C (p.Arg2955=)
c.8809A>C (p.Arg2937=)
c.8599A>C (p.Arg2867=)
c.8245A>C (p.Arg2749=)
c.6142A>C (p.Arg2048=)
n.9092A>C
c.8728A>C (p.Arg2910=)
c.7924A>C (p.Arg2642=)
c.7729A>C (p.Arg2577=)
n.9141A>C
5g.37125286C>ACA359498752CPLANE1n.1915G>T
c.8916G>T (p.Lys2972Asn)
n.777G>T
c.8754G>T (p.Lys2918Asn)
c.5928G>T (n.5928G>T)
n.4097G>T
n.342-3502G>T
c.5952G>T (p.Lys1984Asn)
c.8913G>T (p.Lys2971Asn)
c.8805G>T (p.Lys2935Asn)
c.8787G>T (p.Lys2929Asn)
c.5559G>T (p.Lys1853Asn)
c.3489G>T (p.Lys1163Asn)
c.8862G>T (p.Lys2954Asn)
c.8808G>T (p.Lys2936Asn)
c.8598G>T (p.Lys2866Asn)
c.8244G>T (p.Lys2748Asn)
c.6141G>T (p.Lys2047Asn)
n.9091G>T
c.8727G>T (p.Lys2909Asn)
c.7923G>T (p.Lys2641Asn)
c.7728G>T (p.Lys2576Asn)
n.9140G>T
5g.37125286C>GCA359498753CPLANE1n.1915G>C
c.8916G>C (p.Lys2972Asn)
n.777G>C
c.8754G>C (p.Lys2918Asn)
c.5928G>C (n.5928G>C)
n.4097G>C
n.342-3502G>C
c.5952G>C (p.Lys1984Asn)
c.8913G>C (p.Lys2971Asn)
c.8805G>C (p.Lys2935Asn)
c.8787G>C (p.Lys2929Asn)
c.5559G>C (p.Lys1853Asn)
c.3489G>C (p.Lys1163Asn)
c.8862G>C (p.Lys2954Asn)
c.8808G>C (p.Lys2936Asn)
c.8598G>C (p.Lys2866Asn)
c.8244G>C (p.Lys2748Asn)
c.6141G>C (p.Lys2047Asn)
n.9091G>C
c.8727G>C (p.Lys2909Asn)
c.7923G>C (p.Lys2641Asn)
c.7728G>C (p.Lys2576Asn)
n.9140G>C
 COSMIC COSMIC
5g.37125286C>TCA443921994CPLANE1n.1915G>A
c.8916G>A (p.Lys2972=)
n.777G>A
c.8754G>A (p.Lys2918=)
c.5928G>A (n.5928G>A)
n.4097G>A
n.342-3502G>A
c.5952G>A (p.Lys1984=)
c.8913G>A (p.Lys2971=)
c.8805G>A (p.Lys2935=)
c.8787G>A (p.Lys2929=)
c.5559G>A (p.Lys1853=)
c.3489G>A (p.Lys1163=)
c.8862G>A (p.Lys2954=)
c.8808G>A (p.Lys2936=)
c.8598G>A (p.Lys2866=)
c.8244G>A (p.Lys2748=)
c.6141G>A (p.Lys2047=)
n.9091G>A
c.8727G>A (p.Lys2909=)
c.7923G>A (p.Lys2641=)
c.7728G>A (p.Lys2576=)
n.9140G>A
5g.37125287T>ACA359498756CPLANE1n.1914A>T
c.8915A>T (p.Lys2972Met)
n.776A>T
c.8753A>T (p.Lys2918Met)
c.5927A>T (n.5927A>T)
n.4096A>T
n.342-3503A>T
c.5951A>T (p.Lys1984Met)
c.8912A>T (p.Lys2971Met)
c.8804A>T (p.Lys2935Met)
c.8786A>T (p.Lys2929Met)
c.5558A>T (p.Lys1853Met)
c.3488A>T (p.Lys1163Met)
c.8861A>T (p.Lys2954Met)
c.8807A>T (p.Lys2936Met)
c.8597A>T (p.Lys2866Met)
c.8243A>T (p.Lys2748Met)
c.6140A>T (p.Lys2047Met)
n.9090A>T
c.8726A>T (p.Lys2909Met)
c.7922A>T (p.Lys2641Met)
c.7727A>T (p.Lys2576Met)
n.9139A>T
5g.37125287T>CCA359498757CPLANE1n.1914A>G
c.8915A>G (p.Lys2972Arg)
n.776A>G
c.8753A>G (p.Lys2918Arg)
c.5927A>G (n.5927A>G)
n.4096A>G
n.342-3503A>G
c.5951A>G (p.Lys1984Arg)
c.8912A>G (p.Lys2971Arg)
c.8804A>G (p.Lys2935Arg)
c.8786A>G (p.Lys2929Arg)
c.5558A>G (p.Lys1853Arg)
c.3488A>G (p.Lys1163Arg)
c.8861A>G (p.Lys2954Arg)
c.8807A>G (p.Lys2936Arg)
c.8597A>G (p.Lys2866Arg)
c.8243A>G (p.Lys2748Arg)
c.6140A>G (p.Lys2047Arg)
n.9090A>G
c.8726A>G (p.Lys2909Arg)
c.7922A>G (p.Lys2641Arg)
c.7727A>G (p.Lys2576Arg)
n.9139A>G
5g.37125287T>GCA359498758CPLANE1n.1914A>C
c.8915A>C (p.Lys2972Thr)
n.776A>C
c.8753A>C (p.Lys2918Thr)
c.5927A>C (n.5927A>C)
n.4096A>C
n.342-3503A>C
c.5951A>C (p.Lys1984Thr)
c.8912A>C (p.Lys2971Thr)
c.8804A>C (p.Lys2935Thr)
c.8786A>C (p.Lys2929Thr)
c.5558A>C (p.Lys1853Thr)
c.3488A>C (p.Lys1163Thr)
c.8861A>C (p.Lys2954Thr)
c.8807A>C (p.Lys2936Thr)
c.8597A>C (p.Lys2866Thr)
c.8243A>C (p.Lys2748Thr)
c.6140A>C (p.Lys2047Thr)
n.9090A>C
c.8726A>C (p.Lys2909Thr)
c.7922A>C (p.Lys2641Thr)
c.7727A>C (p.Lys2576Thr)
n.9139A>C
5g.37125288T>ACA359498759CPLANE1n.1913A>T
c.8914A>T (p.Lys2972Ter)
n.775A>T
c.8752A>T (p.Lys2918Ter)
c.5926A>T (n.5926A>T)
n.4095A>T
n.342-3504A>T
c.5950A>T (p.Lys1984Ter)
c.8911A>T (p.Lys2971Ter)
c.8803A>T (p.Lys2935Ter)
c.8785A>T (p.Lys2929Ter)
c.5557A>T (p.Lys1853Ter)
c.3487A>T (p.Lys1163Ter)
c.8860A>T (p.Lys2954Ter)
c.8806A>T (p.Lys2936Ter)
c.8596A>T (p.Lys2866Ter)
c.8242A>T (p.Lys2748Ter)
c.6139A>T (p.Lys2047Ter)
n.9089A>T
c.8725A>T (p.Lys2909Ter)
c.7921A>T (p.Lys2641Ter)
c.7726A>T (p.Lys2576Ter)
n.9138A>T
5g.37125288T>CCA359498760CPLANE1n.1913A>G
c.8914A>G (p.Lys2972Glu)
n.775A>G
c.8752A>G (p.Lys2918Glu)
c.5926A>G (n.5926A>G)
n.4095A>G
n.342-3504A>G
c.5950A>G (p.Lys1984Glu)
c.8911A>G (p.Lys2971Glu)
c.8803A>G (p.Lys2935Glu)
c.8785A>G (p.Lys2929Glu)
c.5557A>G (p.Lys1853Glu)
c.3487A>G (p.Lys1163Glu)
c.8860A>G (p.Lys2954Glu)
c.8806A>G (p.Lys2936Glu)
c.8596A>G (p.Lys2866Glu)
c.8242A>G (p.Lys2748Glu)
c.6139A>G (p.Lys2047Glu)
n.9089A>G
c.8725A>G (p.Lys2909Glu)
c.7921A>G (p.Lys2641Glu)
c.7726A>G (p.Lys2576Glu)
n.9138A>G
5g.37125288T>GCA359498761CPLANE1n.1913A>C
c.8914A>C (p.Lys2972Gln)
n.775A>C
c.8752A>C (p.Lys2918Gln)
c.5926A>C (n.5926A>C)
n.4095A>C
n.342-3504A>C
c.5950A>C (p.Lys1984Gln)
c.8911A>C (p.Lys2971Gln)
c.8803A>C (p.Lys2935Gln)
c.8785A>C (p.Lys2929Gln)
c.5557A>C (p.Lys1853Gln)
c.3487A>C (p.Lys1163Gln)
c.8860A>C (p.Lys2954Gln)
c.8806A>C (p.Lys2936Gln)
c.8596A>C (p.Lys2866Gln)
c.8242A>C (p.Lys2748Gln)
c.6139A>C (p.Lys2047Gln)
n.9089A>C
c.8725A>C (p.Lys2909Gln)
c.7921A>C (p.Lys2641Gln)
c.7726A>C (p.Lys2576Gln)
n.9138A>C
5g.37125289T>ACA359498766CPLANE1n.1912A>T
c.8913A>T (p.Glu2971Asp)
n.774A>T
c.8751A>T (p.Glu2917Asp)
c.5925A>T (n.5925A>T)
n.4094A>T
n.342-3505A>T
c.5949A>T (p.Glu1983Asp)
c.8910A>T (p.Glu2970Asp)
c.8802A>T (p.Glu2934Asp)
c.8784A>T (p.Glu2928Asp)
c.5556A>T (p.Glu1852Asp)
c.3486A>T (p.Glu1162Asp)
c.8859A>T (p.Glu2953Asp)
c.8805A>T (p.Glu2935Asp)
c.8595A>T (p.Glu2865Asp)
c.8241A>T (p.Glu2747Asp)
c.6138A>T (p.Glu2046Asp)
n.9088A>T
c.8724A>T (p.Glu2908Asp)
c.7920A>T (p.Glu2640Asp)
c.7725A>T (p.Glu2575Asp)
n.9137A>T
5g.37125289T>CCA443921995CPLANE1n.1912A>G
c.8913A>G (p.Glu2971=)
n.774A>G
c.8751A>G (p.Glu2917=)
c.5925A>G (n.5925A>G)
n.4094A>G
n.342-3505A>G
c.5949A>G (p.Glu1983=)
c.8910A>G (p.Glu2970=)
c.8802A>G (p.Glu2934=)
c.8784A>G (p.Glu2928=)
c.5556A>G (p.Glu1852=)
c.3486A>G (p.Glu1162=)
c.8859A>G (p.Glu2953=)
c.8805A>G (p.Glu2935=)
c.8595A>G (p.Glu2865=)
c.8241A>G (p.Glu2747=)
c.6138A>G (p.Glu2046=)
n.9088A>G
c.8724A>G (p.Glu2908=)
c.7920A>G (p.Glu2640=)
c.7725A>G (p.Glu2575=)
n.9137A>G
5g.37125289T>GCA359498763CPLANE1n.1912A>C
c.8913A>C (p.Glu2971Asp)
n.774A>C
c.8751A>C (p.Glu2917Asp)
c.5925A>C (n.5925A>C)
n.4094A>C
n.342-3505A>C
c.5949A>C (p.Glu1983Asp)
c.8910A>C (p.Glu2970Asp)
c.8802A>C (p.Glu2934Asp)
c.8784A>C (p.Glu2928Asp)
c.5556A>C (p.Glu1852Asp)
c.3486A>C (p.Glu1162Asp)
c.8859A>C (p.Glu2953Asp)
c.8805A>C (p.Glu2935Asp)
c.8595A>C (p.Glu2865Asp)
c.8241A>C (p.Glu2747Asp)
c.6138A>C (p.Glu2046Asp)
n.9088A>C
c.8724A>C (p.Glu2908Asp)
c.7920A>C (p.Glu2640Asp)
c.7725A>C (p.Glu2575Asp)
n.9137A>C
5g.37125290T>ACA359498770CPLANE1n.1911A>T
c.8912A>T (p.Glu2971Val)
n.773A>T
c.8750A>T (p.Glu2917Val)
c.5924A>T (n.5924A>T)
n.4093A>T
n.342-3506A>T
c.5948A>T (p.Glu1983Val)
c.8909A>T (p.Glu2970Val)
c.8801A>T (p.Glu2934Val)
c.8783A>T (p.Glu2928Val)
c.5555A>T (p.Glu1852Val)
c.3485A>T (p.Glu1162Val)
c.8858A>T (p.Glu2953Val)
c.8804A>T (p.Glu2935Val)
c.8594A>T (p.Glu2865Val)
c.8240A>T (p.Glu2747Val)
c.6137A>T (p.Glu2046Val)
n.9087A>T
c.8723A>T (p.Glu2908Val)
c.7919A>T (p.Glu2640Val)
c.7724A>T (p.Glu2575Val)
n.9136A>T
5g.37125290T>CCA359498773CPLANE1n.1911A>G
c.8912A>G (p.Glu2971Gly)
n.773A>G
c.8750A>G (p.Glu2917Gly)
c.5924A>G (n.5924A>G)
n.4093A>G
n.342-3506A>G
c.5948A>G (p.Glu1983Gly)
c.8909A>G (p.Glu2970Gly)
c.8801A>G (p.Glu2934Gly)
c.8783A>G (p.Glu2928Gly)
c.5555A>G (p.Glu1852Gly)
c.3485A>G (p.Glu1162Gly)
c.8858A>G (p.Glu2953Gly)
c.8804A>G (p.Glu2935Gly)
c.8594A>G (p.Glu2865Gly)
c.8240A>G (p.Glu2747Gly)
c.6137A>G (p.Glu2046Gly)
n.9087A>G
c.8723A>G (p.Glu2908Gly)
c.7919A>G (p.Glu2640Gly)
c.7724A>G (p.Glu2575Gly)
n.9136A>G
 gnomAD v4
5g.37125290T>GCA359498772CPLANE1n.1911A>C
c.8912A>C (p.Glu2971Ala)
n.773A>C
c.8750A>C (p.Glu2917Ala)
c.5924A>C (n.5924A>C)
n.4093A>C
n.342-3506A>C
c.5948A>C (p.Glu1983Ala)
c.8909A>C (p.Glu2970Ala)
c.8801A>C (p.Glu2934Ala)
c.8783A>C (p.Glu2928Ala)
c.5555A>C (p.Glu1852Ala)
c.3485A>C (p.Glu1162Ala)
c.8858A>C (p.Glu2953Ala)
c.8804A>C (p.Glu2935Ala)
c.8594A>C (p.Glu2865Ala)
c.8240A>C (p.Glu2747Ala)
c.6137A>C (p.Glu2046Ala)
n.9087A>C
c.8723A>C (p.Glu2908Ala)
c.7919A>C (p.Glu2640Ala)
c.7724A>C (p.Glu2575Ala)
n.9136A>C
5g.37125291C>ACA359498774CPLANE1n.1910G>T
c.8911G>T (p.Glu2971Ter)
n.772G>T
c.8749G>T (p.Glu2917Ter)
c.5923G>T (n.5923G>T)
n.4092G>T
n.342-3507G>T
c.5947G>T (p.Glu1983Ter)
c.8908G>T (p.Glu2970Ter)
c.8800G>T (p.Glu2934Ter)
c.8782G>T (p.Glu2928Ter)
c.5554G>T (p.Glu1852Ter)
c.3484G>T (p.Glu1162Ter)
c.8857G>T (p.Glu2953Ter)
c.8803G>T (p.Glu2935Ter)
c.8593G>T (p.Glu2865Ter)
c.8239G>T (p.Glu2747Ter)
c.6136G>T (p.Glu2046Ter)
n.9086G>T
c.8722G>T (p.Glu2908Ter)
c.7918G>T (p.Glu2640Ter)
c.7723G>T (p.Glu2575Ter)
n.9135G>T
5g.37125291C=CA1539667613CPLANE1n.1910G=
c.8911G= (p.Glu2971=)
n.772G=
c.8749G= (p.Glu2917=)
c.5923G= (n.5923G=)
n.4092G=
n.342-3507G=
c.5947G= (p.Glu1983=)
c.8908G= (p.Glu2970=)
c.8800G= (p.Glu2934=)
c.8782G= (p.Glu2928=)
c.5554G= (p.Glu1852=)
c.3484G= (p.Glu1162=)
c.8857G= (p.Glu2953=)
c.8803G= (p.Glu2935=)
c.8593G= (p.Glu2865=)
c.8239G= (p.Glu2747=)
c.6136G= (p.Glu2046=)
n.9086G=
c.8722G= (p.Glu2908=)
c.7918G= (p.Glu2640=)
c.7723G= (p.Glu2575=)
n.9135G=
5g.37125291C>GCA359498776CPLANE1n.1910G>C
c.8911G>C (p.Glu2971Gln)
n.772G>C
c.8749G>C (p.Glu2917Gln)
c.5923G>C (n.5923G>C)
n.4092G>C
n.342-3507G>C
c.5947G>C (p.Glu1983Gln)
c.8908G>C (p.Glu2970Gln)
c.8800G>C (p.Glu2934Gln)
c.8782G>C (p.Glu2928Gln)
c.5554G>C (p.Glu1852Gln)
c.3484G>C (p.Glu1162Gln)
c.8857G>C (p.Glu2953Gln)
c.8803G>C (p.Glu2935Gln)
c.8593G>C (p.Glu2865Gln)
c.8239G>C (p.Glu2747Gln)
c.6136G>C (p.Glu2046Gln)
n.9086G>C
c.8722G>C (p.Glu2908Gln)
c.7918G>C (p.Glu2640Gln)
c.7723G>C (p.Glu2575Gln)
n.9135G>C
5g.37125291C>TCA359498775CPLANE1n.1910G>A
c.8911G>A (p.Glu2971Lys)
n.772G>A
c.8749G>A (p.Glu2917Lys)
c.5923G>A (n.5923G>A)
n.4092G>A
n.342-3507G>A
c.5947G>A (p.Glu1983Lys)
c.8908G>A (p.Glu2970Lys)
c.8800G>A (p.Glu2934Lys)
c.8782G>A (p.Glu2928Lys)
c.5554G>A (p.Glu1852Lys)
c.3484G>A (p.Glu1162Lys)
c.8857G>A (p.Glu2953Lys)
c.8803G>A (p.Glu2935Lys)
c.8593G>A (p.Glu2865Lys)
c.8239G>A (p.Glu2747Lys)
c.6136G>A (p.Glu2046Lys)
n.9086G>A
c.8722G>A (p.Glu2908Lys)
c.7918G>A (p.Glu2640Lys)
c.7723G>A (p.Glu2575Lys)
n.9135G>A
 dbSNP
5g.37125292T>ACA443921996CPLANE1n.1909A>T
c.8910A>T (p.Ala2970=)
n.771A>T
c.8748A>T (p.Ala2916=)
c.5922A>T (n.5922A>T)
n.4091A>T
n.342-3508A>T
c.5946A>T (p.Ala1982=)
c.8907A>T (p.Ala2969=)
c.8799A>T (p.Ala2933=)
c.8781A>T (p.Ala2927=)
c.5553A>T (p.Ala1851=)
c.3483A>T (p.Ala1161=)
c.8856A>T (p.Ala2952=)
c.8802A>T (p.Ala2934=)
c.8592A>T (p.Ala2864=)
c.8238A>T (p.Ala2746=)
c.6135A>T (p.Ala2045=)
n.9085A>T
c.8721A>T (p.Ala2907=)
c.7917A>T (p.Ala2639=)
c.7722A>T (p.Ala2574=)
n.9134A>T
5g.37125292T>CCA443921998CPLANE1n.1909A>G
c.8910A>G (p.Ala2970=)
n.771A>G
c.8748A>G (p.Ala2916=)
c.5922A>G (n.5922A>G)
n.4091A>G
n.342-3508A>G
c.5946A>G (p.Ala1982=)
c.8907A>G (p.Ala2969=)
c.8799A>G (p.Ala2933=)
c.8781A>G (p.Ala2927=)
c.5553A>G (p.Ala1851=)
c.3483A>G (p.Ala1161=)
c.8856A>G (p.Ala2952=)
c.8802A>G (p.Ala2934=)
c.8592A>G (p.Ala2864=)
c.8238A>G (p.Ala2746=)
c.6135A>G (p.Ala2045=)
n.9085A>G
c.8721A>G (p.Ala2907=)
c.7917A>G (p.Ala2639=)
c.7722A>G (p.Ala2574=)
n.9134A>G
 dbSNP
5g.37125292T>GCA443921999CPLANE1n.1909A>C
c.8910A>C (p.Ala2970=)
n.771A>C
c.8748A>C (p.Ala2916=)
c.5922A>C (n.5922A>C)
n.4091A>C
n.342-3508A>C
c.5946A>C (p.Ala1982=)
c.8907A>C (p.Ala2969=)
c.8799A>C (p.Ala2933=)
c.8781A>C (p.Ala2927=)
c.5553A>C (p.Ala1851=)
c.3483A>C (p.Ala1161=)
c.8856A>C (p.Ala2952=)
c.8802A>C (p.Ala2934=)
c.8592A>C (p.Ala2864=)
c.8238A>C (p.Ala2746=)
c.6135A>C (p.Ala2045=)
n.9085A>C
c.8721A>C (p.Ala2907=)
c.7917A>C (p.Ala2639=)
c.7722A>C (p.Ala2574=)
n.9134A>C
5g.37125292T=CA1539667615CPLANE1n.1909A=
c.8910A= (p.Ala2970=)
n.771A=
c.8748A= (p.Ala2916=)
c.5922A= (n.5922A=)
n.4091A=
n.342-3508A=
c.5946A= (p.Ala1982=)
c.8907A= (p.Ala2969=)
c.8799A= (p.Ala2933=)
c.8781A= (p.Ala2927=)
c.5553A= (p.Ala1851=)
c.3483A= (p.Ala1161=)
c.8856A= (p.Ala2952=)
c.8802A= (p.Ala2934=)
c.8592A= (p.Ala2864=)
c.8238A= (p.Ala2746=)
c.6135A= (p.Ala2045=)
n.9085A=
c.8721A= (p.Ala2907=)
c.7917A= (p.Ala2639=)
c.7722A= (p.Ala2574=)
n.9134A=
5g.37125293G>ACA359498778CPLANE1n.1908C>T
c.8909C>T (p.Ala2970Val)
n.770C>T
c.8747C>T (p.Ala2916Val)
c.5921C>T (n.5921C>T)
n.4090C>T
n.342-3509C>T
c.5945C>T (p.Ala1982Val)
c.8906C>T (p.Ala2969Val)
c.8798C>T (p.Ala2933Val)
c.8780C>T (p.Ala2927Val)
c.5552C>T (p.Ala1851Val)
c.3482C>T (p.Ala1161Val)
c.8855C>T (p.Ala2952Val)
c.8801C>T (p.Ala2934Val)
c.8591C>T (p.Ala2864Val)
c.8237C>T (p.Ala2746Val)
c.6134C>T (p.Ala2045Val)
n.9084C>T
c.8720C>T (p.Ala2907Val)
c.7916C>T (p.Ala2639Val)
c.7721C>T (p.Ala2574Val)
n.9133C>T
 gnomAD v4
5g.37125293G>CCA359498781CPLANE1n.1908C>G
c.8909C>G (p.Ala2970Gly)
n.770C>G
c.8747C>G (p.Ala2916Gly)
c.5921C>G (n.5921C>G)
n.4090C>G
n.342-3509C>G
c.5945C>G (p.Ala1982Gly)
c.8906C>G (p.Ala2969Gly)
c.8798C>G (p.Ala2933Gly)
c.8780C>G (p.Ala2927Gly)
c.5552C>G (p.Ala1851Gly)
c.3482C>G (p.Ala1161Gly)
c.8855C>G (p.Ala2952Gly)
c.8801C>G (p.Ala2934Gly)
c.8591C>G (p.Ala2864Gly)
c.8237C>G (p.Ala2746Gly)
c.6134C>G (p.Ala2045Gly)
n.9084C>G
c.8720C>G (p.Ala2907Gly)
c.7916C>G (p.Ala2639Gly)
c.7721C>G (p.Ala2574Gly)
n.9133C>G
 ClinVar gnomAD v4
5g.37125293G=CA1539667617CPLANE1n.1908C=
c.8909C= (p.Ala2970=)
n.770C=
c.8747C= (p.Ala2916=)
c.5921C= (n.5921C=)
n.4090C=
n.342-3509C=
c.5945C= (p.Ala1982=)
c.8906C= (p.Ala2969=)
c.8798C= (p.Ala2933=)
c.8780C= (p.Ala2927=)
c.5552C= (p.Ala1851=)
c.3482C= (p.Ala1161=)
c.8855C= (p.Ala2952=)
c.8801C= (p.Ala2934=)
c.8591C= (p.Ala2864=)
c.8237C= (p.Ala2746=)
c.6134C= (p.Ala2045=)
n.9084C=
c.8720C= (p.Ala2907=)
c.7916C= (p.Ala2639=)
c.7721C= (p.Ala2574=)
n.9133C=
5g.37125293G>TCA359498784CPLANE1n.1908C>A
c.8909C>A (p.Ala2970Glu)
n.770C>A
c.8747C>A (p.Ala2916Glu)
c.5921C>A (n.5921C>A)
n.4090C>A
n.342-3509C>A
c.5945C>A (p.Ala1982Glu)
c.8906C>A (p.Ala2969Glu)
c.8798C>A (p.Ala2933Glu)
c.8780C>A (p.Ala2927Glu)
c.5552C>A (p.Ala1851Glu)
c.3482C>A (p.Ala1161Glu)
c.8855C>A (p.Ala2952Glu)
c.8801C>A (p.Ala2934Glu)
c.8591C>A (p.Ala2864Glu)
c.8237C>A (p.Ala2746Glu)
c.6134C>A (p.Ala2045Glu)
n.9084C>A
c.8720C>A (p.Ala2907Glu)
c.7916C>A (p.Ala2639Glu)
c.7721C>A (p.Ala2574Glu)
n.9133C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37125294C>ACA359498786CPLANE1n.1907G>T
c.8908G>T (p.Ala2970Ser)
n.769G>T
c.8746G>T (p.Ala2916Ser)
c.5920G>T (n.5920G>T)
n.4089G>T
n.342-3510G>T
c.5944G>T (p.Ala1982Ser)
c.8905G>T (p.Ala2969Ser)
c.8797G>T (p.Ala2933Ser)
c.8779G>T (p.Ala2927Ser)
c.5551G>T (p.Ala1851Ser)
c.3481G>T (p.Ala1161Ser)
c.8854G>T (p.Ala2952Ser)
c.8800G>T (p.Ala2934Ser)
c.8590G>T (p.Ala2864Ser)
c.8236G>T (p.Ala2746Ser)
c.6133G>T (p.Ala2045Ser)
n.9083G>T
c.8719G>T (p.Ala2907Ser)
c.7915G>T (p.Ala2639Ser)
c.7720G>T (p.Ala2574Ser)
n.9132G>T
5g.37125294C=CA1539667620CPLANE1n.1907G=
c.8908G= (p.Ala2970=)
n.769G=
c.8746G= (p.Ala2916=)
c.5920G= (n.5920G=)
n.4089G=
n.342-3510G=
c.5944G= (p.Ala1982=)
c.8905G= (p.Ala2969=)
c.8797G= (p.Ala2933=)
c.8779G= (p.Ala2927=)
c.5551G= (p.Ala1851=)
c.3481G= (p.Ala1161=)
c.8854G= (p.Ala2952=)
c.8800G= (p.Ala2934=)
c.8590G= (p.Ala2864=)
c.8236G= (p.Ala2746=)
c.6133G= (p.Ala2045=)
n.9083G=
c.8719G= (p.Ala2907=)
c.7915G= (p.Ala2639=)
c.7720G= (p.Ala2574=)
n.9132G=
5g.37125294C>GCA359498790CPLANE1n.1907G>C
c.8908G>C (p.Ala2970Pro)
n.769G>C
c.8746G>C (p.Ala2916Pro)
c.5920G>C (n.5920G>C)
n.4089G>C
n.342-3510G>C
c.5944G>C (p.Ala1982Pro)
c.8905G>C (p.Ala2969Pro)
c.8797G>C (p.Ala2933Pro)
c.8779G>C (p.Ala2927Pro)
c.5551G>C (p.Ala1851Pro)
c.3481G>C (p.Ala1161Pro)
c.8854G>C (p.Ala2952Pro)
c.8800G>C (p.Ala2934Pro)
c.8590G>C (p.Ala2864Pro)
c.8236G>C (p.Ala2746Pro)
c.6133G>C (p.Ala2045Pro)
n.9083G>C
c.8719G>C (p.Ala2907Pro)
c.7915G>C (p.Ala2639Pro)
c.7720G>C (p.Ala2574Pro)
n.9132G>C
5g.37125294C>TCA3237633CPLANE1n.1907G>A
c.8908G>A (p.Ala2970Thr)
n.769G>A
c.8746G>A (p.Ala2916Thr)
c.5920G>A (n.5920G>A)
n.4089G>A
n.342-3510G>A
c.5944G>A (p.Ala1982Thr)
c.8905G>A (p.Ala2969Thr)
c.8797G>A (p.Ala2933Thr)
c.8779G>A (p.Ala2927Thr)
c.5551G>A (p.Ala1851Thr)
c.3481G>A (p.Ala1161Thr)
c.8854G>A (p.Ala2952Thr)
c.8800G>A (p.Ala2934Thr)
c.8590G>A (p.Ala2864Thr)
c.8236G>A (p.Ala2746Thr)
c.6133G>A (p.Ala2045Thr)
n.9083G>A
c.8719G>A (p.Ala2907Thr)
c.7915G>A (p.Ala2639Thr)
c.7720G>A (p.Ala2574Thr)
n.9132G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125295C>ACA443922002CPLANE1n.1906G>T
c.8907G>T (p.Leu2969=)
n.768G>T
c.8745G>T (p.Leu2915=)
c.5919G>T (n.5919G>T)
n.4088G>T
n.342-3511G>T
c.5943G>T (p.Leu1981=)
c.8904G>T (p.Leu2968=)
c.8796G>T (p.Leu2932=)
c.8778G>T (p.Leu2926=)
c.5550G>T (p.Leu1850=)
c.3480G>T (p.Leu1160=)
c.8853G>T (p.Leu2951=)
c.8799G>T (p.Leu2933=)
c.8589G>T (p.Leu2863=)
c.8235G>T (p.Leu2745=)
c.6132G>T (p.Leu2044=)
n.9082G>T
c.8718G>T (p.Leu2906=)
c.7914G>T (p.Leu2638=)
c.7719G>T (p.Leu2573=)
n.9131G>T
5g.37125295C>GCA443922000CPLANE1n.1906G>C
c.8907G>C (p.Leu2969=)
n.768G>C
c.8745G>C (p.Leu2915=)
c.5919G>C (n.5919G>C)
n.4088G>C
n.342-3511G>C
c.5943G>C (p.Leu1981=)
c.8904G>C (p.Leu2968=)
c.8796G>C (p.Leu2932=)
c.8778G>C (p.Leu2926=)
c.5550G>C (p.Leu1850=)
c.3480G>C (p.Leu1160=)
c.8853G>C (p.Leu2951=)
c.8799G>C (p.Leu2933=)
c.8589G>C (p.Leu2863=)
c.8235G>C (p.Leu2745=)
c.6132G>C (p.Leu2044=)
n.9082G>C
c.8718G>C (p.Leu2906=)
c.7914G>C (p.Leu2638=)
c.7719G>C (p.Leu2573=)
n.9131G>C
5g.37125295C>TCA443922001CPLANE1n.1906G>A
c.8907G>A (p.Leu2969=)
n.768G>A
c.8745G>A (p.Leu2915=)
c.5919G>A (n.5919G>A)
n.4088G>A
n.342-3511G>A
c.5943G>A (p.Leu1981=)
c.8904G>A (p.Leu2968=)
c.8796G>A (p.Leu2932=)
c.8778G>A (p.Leu2926=)
c.5550G>A (p.Leu1850=)
c.3480G>A (p.Leu1160=)
c.8853G>A (p.Leu2951=)
c.8799G>A (p.Leu2933=)
c.8589G>A (p.Leu2863=)
c.8235G>A (p.Leu2745=)
c.6132G>A (p.Leu2044=)
n.9082G>A
c.8718G>A (p.Leu2906=)
c.7914G>A (p.Leu2638=)
c.7719G>A (p.Leu2573=)
n.9131G>A
5g.37125296A=CA1539667622CPLANE1n.1905T=
c.8906T= (p.Leu2969=)
n.767T=
c.8744T= (p.Leu2915=)
c.5918T= (n.5918T=)
n.4087T=
n.342-3512T=
c.5942T= (p.Leu1981=)
c.8903T= (p.Leu2968=)
c.8795T= (p.Leu2932=)
c.8777T= (p.Leu2926=)
c.5549T= (p.Leu1850=)
c.3479T= (p.Leu1160=)
c.8852T= (p.Leu2951=)
c.8798T= (p.Leu2933=)
c.8588T= (p.Leu2863=)
c.8234T= (p.Leu2745=)
c.6131T= (p.Leu2044=)
n.9081T=
c.8717T= (p.Leu2906=)
c.7913T= (p.Leu2638=)
c.7718T= (p.Leu2573=)
n.9130T=
5g.37125296A>CCA359498791CPLANE1n.1905T>G
c.8906T>G (p.Leu2969Arg)
n.767T>G
c.8744T>G (p.Leu2915Arg)
c.5918T>G (n.5918T>G)
n.4087T>G
n.342-3512T>G
c.5942T>G (p.Leu1981Arg)
c.8903T>G (p.Leu2968Arg)
c.8795T>G (p.Leu2932Arg)
c.8777T>G (p.Leu2926Arg)
c.5549T>G (p.Leu1850Arg)
c.3479T>G (p.Leu1160Arg)
c.8852T>G (p.Leu2951Arg)
c.8798T>G (p.Leu2933Arg)
c.8588T>G (p.Leu2863Arg)
c.8234T>G (p.Leu2745Arg)
c.6131T>G (p.Leu2044Arg)
n.9081T>G
c.8717T>G (p.Leu2906Arg)
c.7913T>G (p.Leu2638Arg)
c.7718T>G (p.Leu2573Arg)
n.9130T>G
 gnomAD v4
5g.37125296A>GCA359498792CPLANE1n.1905T>C
c.8906T>C (p.Leu2969Pro)
n.767T>C
c.8744T>C (p.Leu2915Pro)
c.5918T>C (n.5918T>C)
n.4087T>C
n.342-3512T>C
c.5942T>C (p.Leu1981Pro)
c.8903T>C (p.Leu2968Pro)
c.8795T>C (p.Leu2932Pro)
c.8777T>C (p.Leu2926Pro)
c.5549T>C (p.Leu1850Pro)
c.3479T>C (p.Leu1160Pro)
c.8852T>C (p.Leu2951Pro)
c.8798T>C (p.Leu2933Pro)
c.8588T>C (p.Leu2863Pro)
c.8234T>C (p.Leu2745Pro)
c.6131T>C (p.Leu2044Pro)
n.9081T>C
c.8717T>C (p.Leu2906Pro)
c.7913T>C (p.Leu2638Pro)
c.7718T>C (p.Leu2573Pro)
n.9130T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37125296A>TCA359498796CPLANE1n.1905T>A
c.8906T>A (p.Leu2969Gln)
n.767T>A
c.8744T>A (p.Leu2915Gln)
c.5918T>A (n.5918T>A)
n.4087T>A
n.342-3512T>A
c.5942T>A (p.Leu1981Gln)
c.8903T>A (p.Leu2968Gln)
c.8795T>A (p.Leu2932Gln)
c.8777T>A (p.Leu2926Gln)
c.5549T>A (p.Leu1850Gln)
c.3479T>A (p.Leu1160Gln)
c.8852T>A (p.Leu2951Gln)
c.8798T>A (p.Leu2933Gln)
c.8588T>A (p.Leu2863Gln)
c.8234T>A (p.Leu2745Gln)
c.6131T>A (p.Leu2044Gln)
n.9081T>A
c.8717T>A (p.Leu2906Gln)
c.7913T>A (p.Leu2638Gln)
c.7718T>A (p.Leu2573Gln)
n.9130T>A
5g.37125297G>ACA443922003CPLANE1n.1904C>T
c.8905C>T (p.Leu2969=)
n.766C>T
c.8743C>T (p.Leu2915=)
c.5917C>T (n.5917C>T)
n.4086C>T
n.342-3513C>T
c.5941C>T (p.Leu1981=)
c.8902C>T (p.Leu2968=)
c.8794C>T (p.Leu2932=)
c.8776C>T (p.Leu2926=)
c.5548C>T (p.Leu1850=)
c.3478C>T (p.Leu1160=)
c.8851C>T (p.Leu2951=)
c.8797C>T (p.Leu2933=)
c.8587C>T (p.Leu2863=)
c.8233C>T (p.Leu2745=)
c.6130C>T (p.Leu2044=)
n.9080C>T
c.8716C>T (p.Leu2906=)
c.7912C>T (p.Leu2638=)
c.7717C>T (p.Leu2573=)
n.9129C>T
 gnomAD v4
5g.37125297G>CCA359498803CPLANE1n.1904C>G
c.8905C>G (p.Leu2969Val)
n.766C>G
c.8743C>G (p.Leu2915Val)
c.5917C>G (n.5917C>G)
n.4086C>G
n.342-3513C>G
c.5941C>G (p.Leu1981Val)
c.8902C>G (p.Leu2968Val)
c.8794C>G (p.Leu2932Val)
c.8776C>G (p.Leu2926Val)
c.5548C>G (p.Leu1850Val)
c.3478C>G (p.Leu1160Val)
c.8851C>G (p.Leu2951Val)
c.8797C>G (p.Leu2933Val)
c.8587C>G (p.Leu2863Val)
c.8233C>G (p.Leu2745Val)
c.6130C>G (p.Leu2044Val)
n.9080C>G
c.8716C>G (p.Leu2906Val)
c.7912C>G (p.Leu2638Val)
c.7717C>G (p.Leu2573Val)
n.9129C>G
5g.37125297G=CA1539667624CPLANE1n.1904C=
c.8905C= (p.Leu2969=)
n.766C=
c.8743C= (p.Leu2915=)
c.5917C= (n.5917C=)
n.4086C=
n.342-3513C=
c.5941C= (p.Leu1981=)
c.8902C= (p.Leu2968=)
c.8794C= (p.Leu2932=)
c.8776C= (p.Leu2926=)
c.5548C= (p.Leu1850=)
c.3478C= (p.Leu1160=)
c.8851C= (p.Leu2951=)
c.8797C= (p.Leu2933=)
c.8587C= (p.Leu2863=)
c.8233C= (p.Leu2745=)
c.6130C= (p.Leu2044=)
n.9080C=
c.8716C= (p.Leu2906=)
c.7912C= (p.Leu2638=)
c.7717C= (p.Leu2573=)
n.9129C=
5g.37125297G>TCA359498812CPLANE1n.1904C>A
c.8905C>A (p.Leu2969Met)
n.766C>A
c.8743C>A (p.Leu2915Met)
c.5917C>A (n.5917C>A)
n.4086C>A
n.342-3513C>A
c.5941C>A (p.Leu1981Met)
c.8902C>A (p.Leu2968Met)
c.8794C>A (p.Leu2932Met)
c.8776C>A (p.Leu2926Met)
c.5548C>A (p.Leu1850Met)
c.3478C>A (p.Leu1160Met)
c.8851C>A (p.Leu2951Met)
c.8797C>A (p.Leu2933Met)
c.8587C>A (p.Leu2863Met)
c.8233C>A (p.Leu2745Met)
c.6130C>A (p.Leu2044Met)
n.9080C>A
c.8716C>A (p.Leu2906Met)
c.7912C>A (p.Leu2638Met)
c.7717C>A (p.Leu2573Met)
n.9129C>A
 dbSNP gnomAD v2 gnomAD v4
5g.37125298C>ACA359498814CPLANE1n.1903G>T
c.8904G>T (p.Glu2968Asp)
n.765G>T
c.8742G>T (p.Glu2914Asp)
c.5916G>T (n.5916G>T)
n.4085G>T
n.342-3514G>T
c.5940G>T (p.Glu1980Asp)
c.8901G>T (p.Glu2967Asp)
c.8793G>T (p.Glu2931Asp)
c.8775G>T (p.Glu2925Asp)
c.5547G>T (p.Glu1849Asp)
c.3477G>T (p.Glu1159Asp)
c.8850G>T (p.Glu2950Asp)
c.8796G>T (p.Glu2932Asp)
c.8586G>T (p.Glu2862Asp)
c.8232G>T (p.Glu2744Asp)
c.6129G>T (p.Glu2043Asp)
n.9079G>T
c.8715G>T (p.Glu2905Asp)
c.7911G>T (p.Glu2637Asp)
c.7716G>T (p.Glu2572Asp)
n.9128G>T
5g.37125298C>GCA359498817CPLANE1n.1903G>C
c.8904G>C (p.Glu2968Asp)
n.765G>C
c.8742G>C (p.Glu2914Asp)
c.5916G>C (n.5916G>C)
n.4085G>C
n.342-3514G>C
c.5940G>C (p.Glu1980Asp)
c.8901G>C (p.Glu2967Asp)
c.8793G>C (p.Glu2931Asp)
c.8775G>C (p.Glu2925Asp)
c.5547G>C (p.Glu1849Asp)
c.3477G>C (p.Glu1159Asp)
c.8850G>C (p.Glu2950Asp)
c.8796G>C (p.Glu2932Asp)
c.8586G>C (p.Glu2862Asp)
c.8232G>C (p.Glu2744Asp)
c.6129G>C (p.Glu2043Asp)
n.9079G>C
c.8715G>C (p.Glu2905Asp)
c.7911G>C (p.Glu2637Asp)
c.7716G>C (p.Glu2572Asp)
n.9128G>C
5g.37125298C>TCA443922005CPLANE1n.1903G>A
c.8904G>A (p.Glu2968=)
n.765G>A
c.8742G>A (p.Glu2914=)
c.5916G>A (n.5916G>A)
n.4085G>A
n.342-3514G>A
c.5940G>A (p.Glu1980=)
c.8901G>A (p.Glu2967=)
c.8793G>A (p.Glu2931=)
c.8775G>A (p.Glu2925=)
c.5547G>A (p.Glu1849=)
c.3477G>A (p.Glu1159=)
c.8850G>A (p.Glu2950=)
c.8796G>A (p.Glu2932=)
c.8586G>A (p.Glu2862=)
c.8232G>A (p.Glu2744=)
c.6129G>A (p.Glu2043=)
n.9079G>A
c.8715G>A (p.Glu2905=)
c.7911G>A (p.Glu2637=)
c.7716G>A (p.Glu2572=)
n.9128G>A
 ClinVar
5g.37125299T>ACA359498830CPLANE1n.1902A>T
c.8903A>T (p.Glu2968Val)
n.764A>T
c.8741A>T (p.Glu2914Val)
c.5915A>T (n.5915A>T)
n.4084A>T
n.342-3515A>T
c.5939A>T (p.Glu1980Val)
c.8900A>T (p.Glu2967Val)
c.8792A>T (p.Glu2931Val)
c.8774A>T (p.Glu2925Val)
c.5546A>T (p.Glu1849Val)
c.3476A>T (p.Glu1159Val)
c.8849A>T (p.Glu2950Val)
c.8795A>T (p.Glu2932Val)
c.8585A>T (p.Glu2862Val)
c.8231A>T (p.Glu2744Val)
c.6128A>T (p.Glu2043Val)
n.9078A>T
c.8714A>T (p.Glu2905Val)
c.7910A>T (p.Glu2637Val)
c.7715A>T (p.Glu2572Val)
n.9127A>T
5g.37125299T>CCA359498827CPLANE1n.1902A>G
c.8903A>G (p.Glu2968Gly)
n.764A>G
c.8741A>G (p.Glu2914Gly)
c.5915A>G (n.5915A>G)
n.4084A>G
n.342-3515A>G
c.5939A>G (p.Glu1980Gly)
c.8900A>G (p.Glu2967Gly)
c.8792A>G (p.Glu2931Gly)
c.8774A>G (p.Glu2925Gly)
c.5546A>G (p.Glu1849Gly)
c.3476A>G (p.Glu1159Gly)
c.8849A>G (p.Glu2950Gly)
c.8795A>G (p.Glu2932Gly)
c.8585A>G (p.Glu2862Gly)
c.8231A>G (p.Glu2744Gly)
c.6128A>G (p.Glu2043Gly)
n.9078A>G
c.8714A>G (p.Glu2905Gly)
c.7910A>G (p.Glu2637Gly)
c.7715A>G (p.Glu2572Gly)
n.9127A>G
5g.37125299T>GCA359498822CPLANE1n.1902A>C
c.8903A>C (p.Glu2968Ala)
n.764A>C
c.8741A>C (p.Glu2914Ala)
c.5915A>C (n.5915A>C)
n.4084A>C
n.342-3515A>C
c.5939A>C (p.Glu1980Ala)
c.8900A>C (p.Glu2967Ala)
c.8792A>C (p.Glu2931Ala)
c.8774A>C (p.Glu2925Ala)
c.5546A>C (p.Glu1849Ala)
c.3476A>C (p.Glu1159Ala)
c.8849A>C (p.Glu2950Ala)
c.8795A>C (p.Glu2932Ala)
c.8585A>C (p.Glu2862Ala)
c.8231A>C (p.Glu2744Ala)
c.6128A>C (p.Glu2043Ala)
n.9078A>C
c.8714A>C (p.Glu2905Ala)
c.7910A>C (p.Glu2637Ala)
c.7715A>C (p.Glu2572Ala)
n.9127A>C
5g.37125300C>ACA359498834CPLANE1n.1901G>T
c.8902G>T (p.Glu2968Ter)
n.763G>T
c.8740G>T (p.Glu2914Ter)
c.5914G>T (n.5914G>T)
n.4083G>T
n.342-3516G>T
c.5938G>T (p.Glu1980Ter)
c.8899G>T (p.Glu2967Ter)
c.8791G>T (p.Glu2931Ter)
c.8773G>T (p.Glu2925Ter)
c.5545G>T (p.Glu1849Ter)
c.3475G>T (p.Glu1159Ter)
c.8848G>T (p.Glu2950Ter)
c.8794G>T (p.Glu2932Ter)
c.8584G>T (p.Glu2862Ter)
c.8230G>T (p.Glu2744Ter)
c.6127G>T (p.Glu2043Ter)
n.9077G>T
c.8713G>T (p.Glu2905Ter)
c.7909G>T (p.Glu2637Ter)
c.7714G>T (p.Glu2572Ter)
n.9126G>T
5g.37125300C>GCA359498841CPLANE1n.1901G>C
c.8902G>C (p.Glu2968Gln)
n.763G>C
c.8740G>C (p.Glu2914Gln)
c.5914G>C (n.5914G>C)
n.4083G>C
n.342-3516G>C
c.5938G>C (p.Glu1980Gln)
c.8899G>C (p.Glu2967Gln)
c.8791G>C (p.Glu2931Gln)
c.8773G>C (p.Glu2925Gln)
c.5545G>C (p.Glu1849Gln)
c.3475G>C (p.Glu1159Gln)
c.8848G>C (p.Glu2950Gln)
c.8794G>C (p.Glu2932Gln)
c.8584G>C (p.Glu2862Gln)
c.8230G>C (p.Glu2744Gln)
c.6127G>C (p.Glu2043Gln)
n.9077G>C
c.8713G>C (p.Glu2905Gln)
c.7909G>C (p.Glu2637Gln)
c.7714G>C (p.Glu2572Gln)
n.9126G>C
5g.37125300C>TCA359498845CPLANE1n.1901G>A
c.8902G>A (p.Glu2968Lys)
n.763G>A
c.8740G>A (p.Glu2914Lys)
c.5914G>A (n.5914G>A)
n.4083G>A
n.342-3516G>A
c.5938G>A (p.Glu1980Lys)
c.8899G>A (p.Glu2967Lys)
c.8791G>A (p.Glu2931Lys)
c.8773G>A (p.Glu2925Lys)
c.5545G>A (p.Glu1849Lys)
c.3475G>A (p.Glu1159Lys)
c.8848G>A (p.Glu2950Lys)
c.8794G>A (p.Glu2932Lys)
c.8584G>A (p.Glu2862Lys)
c.8230G>A (p.Glu2744Lys)
c.6127G>A (p.Glu2043Lys)
n.9077G>A
c.8713G>A (p.Glu2905Lys)
c.7909G>A (p.Glu2637Lys)
c.7714G>A (p.Glu2572Lys)
n.9126G>A
5g.37125301A=CA1539667626CPLANE1n.1900T=
c.8901T= (p.Asn2967=)
n.762T=
c.8739T= (p.Asn2913=)
c.5913T= (n.5913T=)
n.4082T=
n.342-3517T=
c.5937T= (p.Asn1979=)
c.8898T= (p.Asn2966=)
c.8790T= (p.Asn2930=)
c.8772T= (p.Asn2924=)
c.5544T= (p.Asn1848=)
c.3474T= (p.Asn1158=)
c.8847T= (p.Asn2949=)
c.8793T= (p.Asn2931=)
c.8583T= (p.Asn2861=)
c.8229T= (p.Asn2743=)
c.6126T= (p.Asn2042=)
n.9076T=
c.8712T= (p.Asn2904=)
c.7908T= (p.Asn2636=)
c.7713T= (p.Asn2571=)
n.9125T=
5g.37125301A>CCA359498852CPLANE1n.1900T>G
c.8901T>G (p.Asn2967Lys)
n.762T>G
c.8739T>G (p.Asn2913Lys)
c.5913T>G (n.5913T>G)
n.4082T>G
n.342-3517T>G
c.5937T>G (p.Asn1979Lys)
c.8898T>G (p.Asn2966Lys)
c.8790T>G (p.Asn2930Lys)
c.8772T>G (p.Asn2924Lys)
c.5544T>G (p.Asn1848Lys)
c.3474T>G (p.Asn1158Lys)
c.8847T>G (p.Asn2949Lys)
c.8793T>G (p.Asn2931Lys)
c.8583T>G (p.Asn2861Lys)
c.8229T>G (p.Asn2743Lys)
c.6126T>G (p.Asn2042Lys)
n.9076T>G
c.8712T>G (p.Asn2904Lys)
c.7908T>G (p.Asn2636Lys)
c.7713T>G (p.Asn2571Lys)
n.9125T>G
5g.37125301A>GCA117059190CPLANE1n.1900T>C
c.8901T>C (p.Asn2967=)
n.762T>C
c.8739T>C (p.Asn2913=)
c.5913T>C (n.5913T>C)
n.4082T>C
n.342-3517T>C
c.5937T>C (p.Asn1979=)
c.8898T>C (p.Asn2966=)
c.8790T>C (p.Asn2930=)
c.8772T>C (p.Asn2924=)
c.5544T>C (p.Asn1848=)
c.3474T>C (p.Asn1158=)
c.8847T>C (p.Asn2949=)
c.8793T>C (p.Asn2931=)
c.8583T>C (p.Asn2861=)
c.8229T>C (p.Asn2743=)
c.6126T>C (p.Asn2042=)
n.9076T>C
c.8712T>C (p.Asn2904=)
c.7908T>C (p.Asn2636=)
c.7713T>C (p.Asn2571=)
n.9125T>C
 dbSNP gnomAD v4
5g.37125301A>TCA359498858CPLANE1n.1900T>A
c.8901T>A (p.Asn2967Lys)
n.762T>A
c.8739T>A (p.Asn2913Lys)
c.5913T>A (n.5913T>A)
n.4082T>A
n.342-3517T>A
c.5937T>A (p.Asn1979Lys)
c.8898T>A (p.Asn2966Lys)
c.8790T>A (p.Asn2930Lys)
c.8772T>A (p.Asn2924Lys)
c.5544T>A (p.Asn1848Lys)
c.3474T>A (p.Asn1158Lys)
c.8847T>A (p.Asn2949Lys)
c.8793T>A (p.Asn2931Lys)
c.8583T>A (p.Asn2861Lys)
c.8229T>A (p.Asn2743Lys)
c.6126T>A (p.Asn2042Lys)
n.9076T>A
c.8712T>A (p.Asn2904Lys)
c.7908T>A (p.Asn2636Lys)
c.7713T>A (p.Asn2571Lys)
n.9125T>A
5g.37125302T>ACA359498861CPLANE1n.1899A>T
c.8900A>T (p.Asn2967Ile)
n.761A>T
c.8738A>T (p.Asn2913Ile)
c.5912A>T (n.5912A>T)
n.4081A>T
n.342-3518A>T
c.5936A>T (p.Asn1979Ile)
c.8897A>T (p.Asn2966Ile)
c.8789A>T (p.Asn2930Ile)
c.8771A>T (p.Asn2924Ile)
c.5543A>T (p.Asn1848Ile)
c.3473A>T (p.Asn1158Ile)
c.8846A>T (p.Asn2949Ile)
c.8792A>T (p.Asn2931Ile)
c.8582A>T (p.Asn2861Ile)
c.8228A>T (p.Asn2743Ile)
c.6125A>T (p.Asn2042Ile)
n.9075A>T
c.8711A>T (p.Asn2904Ile)
c.7907A>T (p.Asn2636Ile)
c.7712A>T (p.Asn2571Ile)
n.9124A>T
5g.37125302T>CCA359498894CPLANE1n.1899A>G
c.8900A>G (p.Asn2967Ser)
n.761A>G
c.8738A>G (p.Asn2913Ser)
c.5912A>G (n.5912A>G)
n.4081A>G
n.342-3518A>G
c.5936A>G (p.Asn1979Ser)
c.8897A>G (p.Asn2966Ser)
c.8789A>G (p.Asn2930Ser)
c.8771A>G (p.Asn2924Ser)
c.5543A>G (p.Asn1848Ser)
c.3473A>G (p.Asn1158Ser)
c.8846A>G (p.Asn2949Ser)
c.8792A>G (p.Asn2931Ser)
c.8582A>G (p.Asn2861Ser)
c.8228A>G (p.Asn2743Ser)
c.6125A>G (p.Asn2042Ser)
n.9075A>G
c.8711A>G (p.Asn2904Ser)
c.7907A>G (p.Asn2636Ser)
c.7712A>G (p.Asn2571Ser)
n.9124A>G
5g.37125302T>GCA359498903CPLANE1n.1899A>C
c.8900A>C (p.Asn2967Thr)
n.761A>C
c.8738A>C (p.Asn2913Thr)
c.5912A>C (n.5912A>C)
n.4081A>C
n.342-3518A>C
c.5936A>C (p.Asn1979Thr)
c.8897A>C (p.Asn2966Thr)
c.8789A>C (p.Asn2930Thr)
c.8771A>C (p.Asn2924Thr)
c.5543A>C (p.Asn1848Thr)
c.3473A>C (p.Asn1158Thr)
c.8846A>C (p.Asn2949Thr)
c.8792A>C (p.Asn2931Thr)
c.8582A>C (p.Asn2861Thr)
c.8228A>C (p.Asn2743Thr)
c.6125A>C (p.Asn2042Thr)
n.9075A>C
c.8711A>C (p.Asn2904Thr)
c.7907A>C (p.Asn2636Thr)
c.7712A>C (p.Asn2571Thr)
n.9124A>C
5g.37125303T>ACA359498907CPLANE1n.1898A>T
c.8899A>T (p.Asn2967Tyr)
n.760A>T
c.8737A>T (p.Asn2913Tyr)
c.5911A>T (n.5911A>T)
n.4080A>T
n.342-3519A>T
c.5935A>T (p.Asn1979Tyr)
c.8896A>T (p.Asn2966Tyr)
c.8788A>T (p.Asn2930Tyr)
c.8770A>T (p.Asn2924Tyr)
c.5542A>T (p.Asn1848Tyr)
c.3472A>T (p.Asn1158Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8791A>T (p.Asn2931Tyr)
c.8581A>T (p.Asn2861Tyr)
c.8227A>T (p.Asn2743Tyr)
c.6124A>T (p.Asn2042Tyr)
n.9074A>T
c.8710A>T (p.Asn2904Tyr)
c.7906A>T (p.Asn2636Tyr)
c.7711A>T (p.Asn2571Tyr)
n.9123A>T
5g.37125303T>CCA359498911CPLANE1n.1898A>G
c.8899A>G (p.Asn2967Asp)
n.760A>G
c.8737A>G (p.Asn2913Asp)
c.5911A>G (n.5911A>G)
n.4080A>G
n.342-3519A>G
c.5935A>G (p.Asn1979Asp)
c.8896A>G (p.Asn2966Asp)
c.8788A>G (p.Asn2930Asp)
c.8770A>G (p.Asn2924Asp)
c.5542A>G (p.Asn1848Asp)
c.3472A>G (p.Asn1158Asp)
c.8845A>G (p.Asn2949Asp)
c.8791A>G (p.Asn2931Asp)
c.8581A>G (p.Asn2861Asp)
c.8227A>G (p.Asn2743Asp)
c.6124A>G (p.Asn2042Asp)
n.9074A>G
c.8710A>G (p.Asn2904Asp)
c.7906A>G (p.Asn2636Asp)
c.7711A>G (p.Asn2571Asp)
n.9123A>G
 dbSNP gnomAD v4
5g.37125303T>GCA359498916CPLANE1n.1898A>C
c.8899A>C (p.Asn2967His)
n.760A>C
c.8737A>C (p.Asn2913His)
c.5911A>C (n.5911A>C)
n.4080A>C
n.342-3519A>C
c.5935A>C (p.Asn1979His)
c.8896A>C (p.Asn2966His)
c.8788A>C (p.Asn2930His)
c.8770A>C (p.Asn2924His)
c.5542A>C (p.Asn1848His)
c.3472A>C (p.Asn1158His)
c.8845A>C (p.Asn2949His)
c.8791A>C (p.Asn2931His)
c.8581A>C (p.Asn2861His)
c.8227A>C (p.Asn2743His)
c.6124A>C (p.Asn2042His)
n.9074A>C
c.8710A>C (p.Asn2904His)
c.7906A>C (p.Asn2636His)
c.7711A>C (p.Asn2571His)
n.9123A>C
5g.37125303T=CA1539667628CPLANE1n.1898A=
c.8899A= (p.Asn2967=)
n.760A=
c.8737A= (p.Asn2913=)
c.5911A= (n.5911A=)
n.4080A=
n.342-3519A=
c.5935A= (p.Asn1979=)
c.8896A= (p.Asn2966=)
c.8788A= (p.Asn2930=)
c.8770A= (p.Asn2924=)
c.5542A= (p.Asn1848=)
c.3472A= (p.Asn1158=)
c.8845A= (p.Asn2949=)
c.8791A= (p.Asn2931=)
c.8581A= (p.Asn2861=)
c.8227A= (p.Asn2743=)
c.6124A= (p.Asn2042=)
n.9074A=
c.8710A= (p.Asn2904=)
c.7906A= (p.Asn2636=)
c.7711A= (p.Asn2571=)
n.9123A=
5g.37125304T>ACA359498920CPLANE1n.1897A>T
c.8898A>T (p.Leu2966Phe)
n.759A>T
c.8736A>T (p.Leu2912Phe)
c.5910A>T (n.5910A>T)
n.4079A>T
n.342-3520A>T
c.5934A>T (p.Leu1978Phe)
c.8895A>T (p.Leu2965Phe)
c.8787A>T (p.Leu2929Phe)
c.8769A>T (p.Leu2923Phe)
c.5541A>T (p.Leu1847Phe)
c.3471A>T (p.Leu1157Phe)
c.8844A>T (p.Leu2948Phe)
c.8790A>T (p.Leu2930Phe)
c.8580A>T (p.Leu2860Phe)
c.8226A>T (p.Leu2742Phe)
c.6123A>T (p.Leu2041Phe)
n.9073A>T
c.8709A>T (p.Leu2903Phe)
c.7905A>T (p.Leu2635Phe)
c.7710A>T (p.Leu2570Phe)
n.9122A>T
5g.37125304T>CCA443922006CPLANE1n.1897A>G
c.8898A>G (p.Leu2966=)
n.759A>G
c.8736A>G (p.Leu2912=)
c.5910A>G (n.5910A>G)
n.4079A>G
n.342-3520A>G
c.5934A>G (p.Leu1978=)
c.8895A>G (p.Leu2965=)
c.8787A>G (p.Leu2929=)
c.8769A>G (p.Leu2923=)
c.5541A>G (p.Leu1847=)
c.3471A>G (p.Leu1157=)
c.8844A>G (p.Leu2948=)
c.8790A>G (p.Leu2930=)
c.8580A>G (p.Leu2860=)
c.8226A>G (p.Leu2742=)
c.6123A>G (p.Leu2041=)
n.9073A>G
c.8709A>G (p.Leu2903=)
c.7905A>G (p.Leu2635=)
c.7710A>G (p.Leu2570=)
n.9122A>G
5g.37125304T>GCA359498936CPLANE1n.1897A>C
c.8898A>C (p.Leu2966Phe)
n.759A>C
c.8736A>C (p.Leu2912Phe)
c.5910A>C (n.5910A>C)
n.4079A>C
n.342-3520A>C
c.5934A>C (p.Leu1978Phe)
c.8895A>C (p.Leu2965Phe)
c.8787A>C (p.Leu2929Phe)
c.8769A>C (p.Leu2923Phe)
c.5541A>C (p.Leu1847Phe)
c.3471A>C (p.Leu1157Phe)
c.8844A>C (p.Leu2948Phe)
c.8790A>C (p.Leu2930Phe)
c.8580A>C (p.Leu2860Phe)
c.8226A>C (p.Leu2742Phe)
c.6123A>C (p.Leu2041Phe)
n.9073A>C
c.8709A>C (p.Leu2903Phe)
c.7905A>C (p.Leu2635Phe)
c.7710A>C (p.Leu2570Phe)
n.9122A>C
5g.37125305A>CCA359498948CPLANE1n.1896T>G
c.8897T>G (p.Leu2966Ter)
n.758T>G
c.8735T>G (p.Leu2912Ter)
c.5909T>G (n.5909T>G)
n.4078T>G
n.342-3521T>G
c.5933T>G (p.Leu1978Ter)
c.8894T>G (p.Leu2965Ter)
c.8786T>G (p.Leu2929Ter)
c.8768T>G (p.Leu2923Ter)
c.5540T>G (p.Leu1847Ter)
c.3470T>G (p.Leu1157Ter)
c.8843T>G (p.Leu2948Ter)
c.8789T>G (p.Leu2930Ter)
c.8579T>G (p.Leu2860Ter)
c.8225T>G (p.Leu2742Ter)
c.6122T>G (p.Leu2041Ter)
n.9072T>G
c.8708T>G (p.Leu2903Ter)
c.7904T>G (p.Leu2635Ter)
c.7709T>G (p.Leu2570Ter)
n.9121T>G
5g.37125305A>GCA359498945CPLANE1n.1896T>C
c.8897T>C (p.Leu2966Ser)
n.758T>C
c.8735T>C (p.Leu2912Ser)
c.5909T>C (n.5909T>C)
n.4078T>C
n.342-3521T>C
c.5933T>C (p.Leu1978Ser)
c.8894T>C (p.Leu2965Ser)
c.8786T>C (p.Leu2929Ser)
c.8768T>C (p.Leu2923Ser)
c.5540T>C (p.Leu1847Ser)
c.3470T>C (p.Leu1157Ser)
c.8843T>C (p.Leu2948Ser)
c.8789T>C (p.Leu2930Ser)
c.8579T>C (p.Leu2860Ser)
c.8225T>C (p.Leu2742Ser)
c.6122T>C (p.Leu2041Ser)
n.9072T>C
c.8708T>C (p.Leu2903Ser)
c.7904T>C (p.Leu2635Ser)
c.7709T>C (p.Leu2570Ser)
n.9121T>C
5g.37125305A>TCA359498940CPLANE1n.1896T>A
c.8897T>A (p.Leu2966Ter)
n.758T>A
c.8735T>A (p.Leu2912Ter)
c.5909T>A (n.5909T>A)
n.4078T>A
n.342-3521T>A
c.5933T>A (p.Leu1978Ter)
c.8894T>A (p.Leu2965Ter)
c.8786T>A (p.Leu2929Ter)
c.8768T>A (p.Leu2923Ter)
c.5540T>A (p.Leu1847Ter)
c.3470T>A (p.Leu1157Ter)
c.8843T>A (p.Leu2948Ter)
c.8789T>A (p.Leu2930Ter)
c.8579T>A (p.Leu2860Ter)
c.8225T>A (p.Leu2742Ter)
c.6122T>A (p.Leu2041Ter)
n.9072T>A
c.8708T>A (p.Leu2903Ter)
c.7904T>A (p.Leu2635Ter)
c.7709T>A (p.Leu2570Ter)
n.9121T>A
5g.37125306A=CA1539667629CPLANE1n.1895T=
c.8896T= (p.Leu2966=)
n.757T=
c.8734T= (p.Leu2912=)
c.5908T= (n.5908T=)
n.4077T=
n.342-3522T=
c.5932T= (p.Leu1978=)
c.8893T= (p.Leu2965=)
c.8785T= (p.Leu2929=)
c.8767T= (p.Leu2923=)
c.5539T= (p.Leu1847=)
c.3469T= (p.Leu1157=)
c.8842T= (p.Leu2948=)
c.8788T= (p.Leu2930=)
c.8578T= (p.Leu2860=)
c.8224T= (p.Leu2742=)
c.6121T= (p.Leu2041=)
n.9071T=
c.8707T= (p.Leu2903=)
c.7903T= (p.Leu2635=)
c.7708T= (p.Leu2570=)
n.9120T=
5g.37125306A>CCA359498952CPLANE1n.1895T>G
c.8896T>G (p.Leu2966Val)
n.757T>G
c.8734T>G (p.Leu2912Val)
c.5908T>G (n.5908T>G)
n.4077T>G
n.342-3522T>G
c.5932T>G (p.Leu1978Val)
c.8893T>G (p.Leu2965Val)
c.8785T>G (p.Leu2929Val)
c.8767T>G (p.Leu2923Val)
c.5539T>G (p.Leu1847Val)
c.3469T>G (p.Leu1157Val)
c.8842T>G (p.Leu2948Val)
c.8788T>G (p.Leu2930Val)
c.8578T>G (p.Leu2860Val)
c.8224T>G (p.Leu2742Val)
c.6121T>G (p.Leu2041Val)
n.9071T>G
c.8707T>G (p.Leu2903Val)
c.7903T>G (p.Leu2635Val)
c.7708T>G (p.Leu2570Val)
n.9120T>G
5g.37125306A>GCA117059194CPLANE1n.1895T>C
c.8896T>C (p.Leu2966=)
n.757T>C
c.8734T>C (p.Leu2912=)
c.5908T>C (n.5908T>C)
n.4077T>C
n.342-3522T>C
c.5932T>C (p.Leu1978=)
c.8893T>C (p.Leu2965=)
c.8785T>C (p.Leu2929=)
c.8767T>C (p.Leu2923=)
c.5539T>C (p.Leu1847=)
c.3469T>C (p.Leu1157=)
c.8842T>C (p.Leu2948=)
c.8788T>C (p.Leu2930=)
c.8578T>C (p.Leu2860=)
c.8224T>C (p.Leu2742=)
c.6121T>C (p.Leu2041=)
n.9071T>C
c.8707T>C (p.Leu2903=)
c.7903T>C (p.Leu2635=)
c.7708T>C (p.Leu2570=)
n.9120T>C
 dbSNP gnomAD v4
5g.37125306A>TCA359498963CPLANE1n.1895T>A
c.8896T>A (p.Leu2966Ile)
n.757T>A
c.8734T>A (p.Leu2912Ile)
c.5908T>A (n.5908T>A)
n.4077T>A
n.342-3522T>A
c.5932T>A (p.Leu1978Ile)
c.8893T>A (p.Leu2965Ile)
c.8785T>A (p.Leu2929Ile)
c.8767T>A (p.Leu2923Ile)
c.5539T>A (p.Leu1847Ile)
c.3469T>A (p.Leu1157Ile)
c.8842T>A (p.Leu2948Ile)
c.8788T>A (p.Leu2930Ile)
c.8578T>A (p.Leu2860Ile)
c.8224T>A (p.Leu2742Ile)
c.6121T>A (p.Leu2041Ile)
n.9071T>A
c.8707T>A (p.Leu2903Ile)
c.7903T>A (p.Leu2635Ile)
c.7708T>A (p.Leu2570Ile)
n.9120T>A
5g.37125307G>ACA443922010CPLANE1n.1894C>T
c.8895C>T (p.Tyr2965=)
n.756C>T
c.8733C>T (p.Tyr2911=)
c.5907C>T (n.5907C>T)
n.4076C>T
n.342-3523C>T
c.5931C>T (p.Tyr1977=)
c.8892C>T (p.Tyr2964=)
c.8784C>T (p.Tyr2928=)
c.8766C>T (p.Tyr2922=)
c.5538C>T (p.Tyr1846=)
c.3468C>T (p.Tyr1156=)
c.8841C>T (p.Tyr2947=)
c.8787C>T (p.Tyr2929=)
c.8577C>T (p.Tyr2859=)
c.8223C>T (p.Tyr2741=)
c.6120C>T (p.Tyr2040=)
n.9070C>T
c.8706C>T (p.Tyr2902=)
c.7902C>T (p.Tyr2634=)
c.7707C>T (p.Tyr2569=)
n.9119C>T
 gnomAD v4
5g.37125307G>CCA359498973CPLANE1n.1894C>G
c.8895C>G (p.Tyr2965Ter)
n.756C>G
c.8733C>G (p.Tyr2911Ter)
c.5907C>G (n.5907C>G)
n.4076C>G
n.342-3523C>G
c.5931C>G (p.Tyr1977Ter)
c.8892C>G (p.Tyr2964Ter)
c.8784C>G (p.Tyr2928Ter)
c.8766C>G (p.Tyr2922Ter)
c.5538C>G (p.Tyr1846Ter)
c.3468C>G (p.Tyr1156Ter)
c.8841C>G (p.Tyr2947Ter)
c.8787C>G (p.Tyr2929Ter)
c.8577C>G (p.Tyr2859Ter)
c.8223C>G (p.Tyr2741Ter)
c.6120C>G (p.Tyr2040Ter)
n.9070C>G
c.8706C>G (p.Tyr2902Ter)
c.7902C>G (p.Tyr2634Ter)
c.7707C>G (p.Tyr2569Ter)
n.9119C>G
5g.37125307G>TCA359498975CPLANE1n.1894C>A
c.8895C>A (p.Tyr2965Ter)
n.756C>A
c.8733C>A (p.Tyr2911Ter)
c.5907C>A (n.5907C>A)
n.4076C>A
n.342-3523C>A
c.5931C>A (p.Tyr1977Ter)
c.8892C>A (p.Tyr2964Ter)
c.8784C>A (p.Tyr2928Ter)
c.8766C>A (p.Tyr2922Ter)
c.5538C>A (p.Tyr1846Ter)
c.3468C>A (p.Tyr1156Ter)
c.8841C>A (p.Tyr2947Ter)
c.8787C>A (p.Tyr2929Ter)
c.8577C>A (p.Tyr2859Ter)
c.8223C>A (p.Tyr2741Ter)
c.6120C>A (p.Tyr2040Ter)
n.9070C>A
c.8706C>A (p.Tyr2902Ter)
c.7902C>A (p.Tyr2634Ter)
c.7707C>A (p.Tyr2569Ter)
n.9119C>A
 gnomAD v4
5g.37125307_37125308dupCA2739289739CPLANE1n.1893_1894dup
c.8894_8895dup (p.Leu2966ThrfsTer2)
n.755_756dup
c.8732_8733dup (p.Leu2912ThrfsTer2)
c.5906_5907dup (n.5906_5907dup)
n.4075_4076dup
n.342-3524_342-3523dup
c.5930_5931dup (p.Leu1978ThrfsTer2)
c.8891_8892dup (p.Leu2965ThrfsTer2)
c.8783_8784dup (p.Leu2929ThrfsTer2)
c.8765_8766dup (p.Leu2923ThrfsTer2)
c.5537_5538dup (p.Leu1847ThrfsTer2)
c.3467_3468dup (p.Leu1157ThrfsTer2)
c.8840_8841dup (p.Leu2948ThrfsTer2)
c.8786_8787dup (p.Leu2930ThrfsTer2)
c.8576_8577dup (p.Leu2860ThrfsTer2)
c.8222_8223dup (p.Leu2742ThrfsTer2)
c.6119_6120dup (p.Leu2041ThrfsTer2)
n.9069_9070dup
c.8705_8706dup (p.Leu2903ThrfsTer2)
c.7901_7902dup (p.Leu2635ThrfsTer2)
c.7706_7707dup (p.Leu2570ThrfsTer2)
n.9118_9119dup
5g.37125308T>ACA359498981CPLANE1n.1893A>T
c.8894A>T (p.Tyr2965Phe)
n.755A>T
c.8732A>T (p.Tyr2911Phe)
c.5906A>T (n.5906A>T)
n.4075A>T
n.342-3524A>T
c.5930A>T (p.Tyr1977Phe)
c.8891A>T (p.Tyr2964Phe)
c.8783A>T (p.Tyr2928Phe)
c.8765A>T (p.Tyr2922Phe)
c.5537A>T (p.Tyr1846Phe)
c.3467A>T (p.Tyr1156Phe)
c.8840A>T (p.Tyr2947Phe)
c.8786A>T (p.Tyr2929Phe)
c.8576A>T (p.Tyr2859Phe)
c.8222A>T (p.Tyr2741Phe)
c.6119A>T (p.Tyr2040Phe)
n.9069A>T
c.8705A>T (p.Tyr2902Phe)
c.7901A>T (p.Tyr2634Phe)
c.7706A>T (p.Tyr2569Phe)
n.9118A>T
5g.37125308T>CCA3237634CPLANE1n.1893A>G
c.8894A>G (p.Tyr2965Cys)
n.755A>G
c.8732A>G (p.Tyr2911Cys)
c.5906A>G (n.5906A>G)
n.4075A>G
n.342-3524A>G
c.5930A>G (p.Tyr1977Cys)
c.8891A>G (p.Tyr2964Cys)
c.8783A>G (p.Tyr2928Cys)
c.8765A>G (p.Tyr2922Cys)
c.5537A>G (p.Tyr1846Cys)
c.3467A>G (p.Tyr1156Cys)
c.8840A>G (p.Tyr2947Cys)
c.8786A>G (p.Tyr2929Cys)
c.8576A>G (p.Tyr2859Cys)
c.8222A>G (p.Tyr2741Cys)
c.6119A>G (p.Tyr2040Cys)
n.9069A>G
c.8705A>G (p.Tyr2902Cys)
c.7901A>G (p.Tyr2634Cys)
c.7706A>G (p.Tyr2569Cys)
n.9118A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125308T>GCA359498991CPLANE1n.1893A>C
c.8894A>C (p.Tyr2965Ser)
n.755A>C
c.8732A>C (p.Tyr2911Ser)
c.5906A>C (n.5906A>C)
n.4075A>C
n.342-3524A>C
c.5930A>C (p.Tyr1977Ser)
c.8891A>C (p.Tyr2964Ser)
c.8783A>C (p.Tyr2928Ser)
c.8765A>C (p.Tyr2922Ser)
c.5537A>C (p.Tyr1846Ser)
c.3467A>C (p.Tyr1156Ser)
c.8840A>C (p.Tyr2947Ser)
c.8786A>C (p.Tyr2929Ser)
c.8576A>C (p.Tyr2859Ser)
c.8222A>C (p.Tyr2741Ser)
c.6119A>C (p.Tyr2040Ser)
n.9069A>C
c.8705A>C (p.Tyr2902Ser)
c.7901A>C (p.Tyr2634Ser)
c.7706A>C (p.Tyr2569Ser)
n.9118A>C
5g.37125308T=CA1539667632CPLANE1n.1893A=
c.8894A= (p.Tyr2965=)
n.755A=
c.8732A= (p.Tyr2911=)
c.5906A= (n.5906A=)
n.4075A=
n.342-3524A=
c.5930A= (p.Tyr1977=)
c.8891A= (p.Tyr2964=)
c.8783A= (p.Tyr2928=)
c.8765A= (p.Tyr2922=)
c.5537A= (p.Tyr1846=)
c.3467A= (p.Tyr1156=)
c.8840A= (p.Tyr2947=)
c.8786A= (p.Tyr2929=)
c.8576A= (p.Tyr2859=)
c.8222A= (p.Tyr2741=)
c.6119A= (p.Tyr2040=)
n.9069A=
c.8705A= (p.Tyr2902=)
c.7901A= (p.Tyr2634=)
c.7706A= (p.Tyr2569=)
n.9118A=
5g.37125309A>CCA359498993CPLANE1n.1892T>G
c.8893T>G (p.Tyr2965Asp)
n.754T>G
c.8731T>G (p.Tyr2911Asp)
c.5905T>G (n.5905T>G)
n.4074T>G
n.342-3525T>G
c.5929T>G (p.Tyr1977Asp)
c.8890T>G (p.Tyr2964Asp)
c.8782T>G (p.Tyr2928Asp)
c.8764T>G (p.Tyr2922Asp)
c.5536T>G (p.Tyr1846Asp)
c.3466T>G (p.Tyr1156Asp)
c.8839T>G (p.Tyr2947Asp)
c.8785T>G (p.Tyr2929Asp)
c.8575T>G (p.Tyr2859Asp)
c.8221T>G (p.Tyr2741Asp)
c.6118T>G (p.Tyr2040Asp)
n.9068T>G
c.8704T>G (p.Tyr2902Asp)
c.7900T>G (p.Tyr2634Asp)
c.7705T>G (p.Tyr2569Asp)
n.9117T>G
5g.37125309A>GCA359498996CPLANE1n.1892T>C
c.8893T>C (p.Tyr2965His)
n.754T>C
c.8731T>C (p.Tyr2911His)
c.5905T>C (n.5905T>C)
n.4074T>C
n.342-3525T>C
c.5929T>C (p.Tyr1977His)
c.8890T>C (p.Tyr2964His)
c.8782T>C (p.Tyr2928His)
c.8764T>C (p.Tyr2922His)
c.5536T>C (p.Tyr1846His)
c.3466T>C (p.Tyr1156His)
c.8839T>C (p.Tyr2947His)
c.8785T>C (p.Tyr2929His)
c.8575T>C (p.Tyr2859His)
c.8221T>C (p.Tyr2741His)
c.6118T>C (p.Tyr2040His)
n.9068T>C
c.8704T>C (p.Tyr2902His)
c.7900T>C (p.Tyr2634His)
c.7705T>C (p.Tyr2569His)
n.9117T>C
5g.37125309A>TCA359498998CPLANE1n.1892T>A
c.8893T>A (p.Tyr2965Asn)
n.754T>A
c.8731T>A (p.Tyr2911Asn)
c.5905T>A (n.5905T>A)
n.4074T>A
n.342-3525T>A
c.5929T>A (p.Tyr1977Asn)
c.8890T>A (p.Tyr2964Asn)
c.8782T>A (p.Tyr2928Asn)
c.8764T>A (p.Tyr2922Asn)
c.5536T>A (p.Tyr1846Asn)
c.3466T>A (p.Tyr1156Asn)
c.8839T>A (p.Tyr2947Asn)
c.8785T>A (p.Tyr2929Asn)
c.8575T>A (p.Tyr2859Asn)
c.8221T>A (p.Tyr2741Asn)
c.6118T>A (p.Tyr2040Asn)
n.9068T>A
c.8704T>A (p.Tyr2902Asn)
c.7900T>A (p.Tyr2634Asn)
c.7705T>A (p.Tyr2569Asn)
n.9117T>A
5g.37125310C>ACA359499003CPLANE1n.1891G>T
c.8892G>T (p.Lys2964Asn)
n.753G>T
c.8730G>T (p.Lys2910Asn)
c.5904G>T (n.5904G>T)
n.4073G>T
n.342-3526G>T
c.5928G>T (p.Lys1976Asn)
c.8889G>T (p.Lys2963Asn)
c.8781G>T (p.Lys2927Asn)
c.8763G>T (p.Lys2921Asn)
c.5535G>T (p.Lys1845Asn)
c.3465G>T (p.Lys1155Asn)
c.8838G>T (p.Lys2946Asn)
c.8784G>T (p.Lys2928Asn)
c.8574G>T (p.Lys2858Asn)
c.8220G>T (p.Lys2740Asn)
c.6117G>T (p.Lys2039Asn)
n.9067G>T
c.8703G>T (p.Lys2901Asn)
c.7899G>T (p.Lys2633Asn)
c.7704G>T (p.Lys2568Asn)
n.9116G>T
5g.37125310C=CA1539667634CPLANE1n.1891G=
c.8892G= (p.Lys2964=)
n.753G=
c.8730G= (p.Lys2910=)
c.5904G= (n.5904G=)
n.4073G=
n.342-3526G=
c.5928G= (p.Lys1976=)
c.8889G= (p.Lys2963=)
c.8781G= (p.Lys2927=)
c.8763G= (p.Lys2921=)
c.5535G= (p.Lys1845=)
c.3465G= (p.Lys1155=)
c.8838G= (p.Lys2946=)
c.8784G= (p.Lys2928=)
c.8574G= (p.Lys2858=)
c.8220G= (p.Lys2740=)
c.6117G= (p.Lys2039=)
n.9067G=
c.8703G= (p.Lys2901=)
c.7899G= (p.Lys2633=)
c.7704G= (p.Lys2568=)
n.9116G=
5g.37125310C>GCA359499004CPLANE1n.1891G>C
c.8892G>C (p.Lys2964Asn)
n.753G>C
c.8730G>C (p.Lys2910Asn)
c.5904G>C (n.5904G>C)
n.4073G>C
n.342-3526G>C
c.5928G>C (p.Lys1976Asn)
c.8889G>C (p.Lys2963Asn)
c.8781G>C (p.Lys2927Asn)
c.8763G>C (p.Lys2921Asn)
c.5535G>C (p.Lys1845Asn)
c.3465G>C (p.Lys1155Asn)
c.8838G>C (p.Lys2946Asn)
c.8784G>C (p.Lys2928Asn)
c.8574G>C (p.Lys2858Asn)
c.8220G>C (p.Lys2740Asn)
c.6117G>C (p.Lys2039Asn)
n.9067G>C
c.8703G>C (p.Lys2901Asn)
c.7899G>C (p.Lys2633Asn)
c.7704G>C (p.Lys2568Asn)
n.9116G>C
 gnomAD v4
5g.37125310C>TCA443922013CPLANE1n.1891G>A
c.8892G>A (p.Lys2964=)
n.753G>A
c.8730G>A (p.Lys2910=)
c.5904G>A (n.5904G>A)
n.4073G>A
n.342-3526G>A
c.5928G>A (p.Lys1976=)
c.8889G>A (p.Lys2963=)
c.8781G>A (p.Lys2927=)
c.8763G>A (p.Lys2921=)
c.5535G>A (p.Lys1845=)
c.3465G>A (p.Lys1155=)
c.8838G>A (p.Lys2946=)
c.8784G>A (p.Lys2928=)
c.8574G>A (p.Lys2858=)
c.8220G>A (p.Lys2740=)
c.6117G>A (p.Lys2039=)
n.9067G>A
c.8703G>A (p.Lys2901=)
c.7899G>A (p.Lys2633=)
c.7704G>A (p.Lys2568=)
n.9116G>A
 dbSNP gnomAD v3 gnomAD v4
5g.37125311T>ACA359499010CPLANE1n.1890A>T
c.8891A>T (p.Lys2964Met)
n.752A>T
c.8729A>T (p.Lys2910Met)
c.5903A>T (n.5903A>T)
n.4072A>T
n.342-3527A>T
c.5927A>T (p.Lys1976Met)
c.8888A>T (p.Lys2963Met)
c.8780A>T (p.Lys2927Met)
c.8762A>T (p.Lys2921Met)
c.5534A>T (p.Lys1845Met)
c.3464A>T (p.Lys1155Met)
c.8837A>T (p.Lys2946Met)
c.8783A>T (p.Lys2928Met)
c.8573A>T (p.Lys2858Met)
c.8219A>T (p.Lys2740Met)
c.6116A>T (p.Lys2039Met)
n.9066A>T
c.8702A>T (p.Lys2901Met)
c.7898A>T (p.Lys2633Met)
c.7703A>T (p.Lys2568Met)
n.9115A>T
5g.37125311T>CCA359499006CPLANE1n.1890A>G
c.8891A>G (p.Lys2964Arg)
n.752A>G
c.8729A>G (p.Lys2910Arg)
c.5903A>G (n.5903A>G)
n.4072A>G
n.342-3527A>G
c.5927A>G (p.Lys1976Arg)
c.8888A>G (p.Lys2963Arg)
c.8780A>G (p.Lys2927Arg)
c.8762A>G (p.Lys2921Arg)
c.5534A>G (p.Lys1845Arg)
c.3464A>G (p.Lys1155Arg)
c.8837A>G (p.Lys2946Arg)
c.8783A>G (p.Lys2928Arg)
c.8573A>G (p.Lys2858Arg)
c.8219A>G (p.Lys2740Arg)
c.6116A>G (p.Lys2039Arg)
n.9066A>G
c.8702A>G (p.Lys2901Arg)
c.7898A>G (p.Lys2633Arg)
c.7703A>G (p.Lys2568Arg)
n.9115A>G
5g.37125311T>GCA359499005CPLANE1n.1890A>C
c.8891A>C (p.Lys2964Thr)
n.752A>C
c.8729A>C (p.Lys2910Thr)
c.5903A>C (n.5903A>C)
n.4072A>C
n.342-3527A>C
c.5927A>C (p.Lys1976Thr)
c.8888A>C (p.Lys2963Thr)
c.8780A>C (p.Lys2927Thr)
c.8762A>C (p.Lys2921Thr)
c.5534A>C (p.Lys1845Thr)
c.3464A>C (p.Lys1155Thr)
c.8837A>C (p.Lys2946Thr)
c.8783A>C (p.Lys2928Thr)
c.8573A>C (p.Lys2858Thr)
c.8219A>C (p.Lys2740Thr)
c.6116A>C (p.Lys2039Thr)
n.9066A>C
c.8702A>C (p.Lys2901Thr)
c.7898A>C (p.Lys2633Thr)
c.7703A>C (p.Lys2568Thr)
n.9115A>C
5g.37125312T>ACA359499013CPLANE1n.1889A>T
c.8890A>T (p.Lys2964Ter)
n.751A>T
c.8728A>T (p.Lys2910Ter)
c.5902A>T (n.5902A>T)
n.4071A>T
n.342-3528A>T
c.5926A>T (p.Lys1976Ter)
c.8887A>T (p.Lys2963Ter)
c.8779A>T (p.Lys2927Ter)
c.8761A>T (p.Lys2921Ter)
c.5533A>T (p.Lys1845Ter)
c.3463A>T (p.Lys1155Ter)
c.8836A>T (p.Lys2946Ter)
c.8782A>T (p.Lys2928Ter)
c.8572A>T (p.Lys2858Ter)
c.8218A>T (p.Lys2740Ter)
c.6115A>T (p.Lys2039Ter)
n.9065A>T
c.8701A>T (p.Lys2901Ter)
c.7897A>T (p.Lys2633Ter)
c.7702A>T (p.Lys2568Ter)
n.9114A>T
5g.37125312T>CCA359499018CPLANE1n.1889A>G
c.8890A>G (p.Lys2964Glu)
n.751A>G
c.8728A>G (p.Lys2910Glu)
c.5902A>G (n.5902A>G)
n.4071A>G
n.342-3528A>G
c.5926A>G (p.Lys1976Glu)
c.8887A>G (p.Lys2963Glu)
c.8779A>G (p.Lys2927Glu)
c.8761A>G (p.Lys2921Glu)
c.5533A>G (p.Lys1845Glu)
c.3463A>G (p.Lys1155Glu)
c.8836A>G (p.Lys2946Glu)
c.8782A>G (p.Lys2928Glu)
c.8572A>G (p.Lys2858Glu)
c.8218A>G (p.Lys2740Glu)
c.6115A>G (p.Lys2039Glu)
n.9065A>G
c.8701A>G (p.Lys2901Glu)
c.7897A>G (p.Lys2633Glu)
c.7702A>G (p.Lys2568Glu)
n.9114A>G
5g.37125312T>GCA359499023CPLANE1n.1889A>C
c.8890A>C (p.Lys2964Gln)
n.751A>C
c.8728A>C (p.Lys2910Gln)
c.5902A>C (n.5902A>C)
n.4071A>C
n.342-3528A>C
c.5926A>C (p.Lys1976Gln)
c.8887A>C (p.Lys2963Gln)
c.8779A>C (p.Lys2927Gln)
c.8761A>C (p.Lys2921Gln)
c.5533A>C (p.Lys1845Gln)
c.3463A>C (p.Lys1155Gln)
c.8836A>C (p.Lys2946Gln)
c.8782A>C (p.Lys2928Gln)
c.8572A>C (p.Lys2858Gln)
c.8218A>C (p.Lys2740Gln)
c.6115A>C (p.Lys2039Gln)
n.9065A>C
c.8701A>C (p.Lys2901Gln)
c.7897A>C (p.Lys2633Gln)
c.7702A>C (p.Lys2568Gln)
n.9114A>C
5g.37125313T>ACA443922015CPLANE1n.1888A>T
c.8889A>T (p.Ala2963=)
n.750A>T
c.8727A>T (p.Ala2909=)
c.5901A>T (n.5901A>T)
n.4070A>T
n.342-3529A>T
c.5925A>T (p.Ala1975=)
c.8886A>T (p.Ala2962=)
c.8778A>T (p.Ala2926=)
c.8760A>T (p.Ala2920=)
c.5532A>T (p.Ala1844=)
c.3462A>T (p.Ala1154=)
c.8835A>T (p.Ala2945=)
c.8781A>T (p.Ala2927=)
c.8571A>T (p.Ala2857=)
c.8217A>T (p.Ala2739=)
c.6114A>T (p.Ala2038=)
n.9064A>T
c.8700A>T (p.Ala2900=)
c.7896A>T (p.Ala2632=)
c.7701A>T (p.Ala2567=)
n.9113A>T
5g.37125313T>CCA443922016CPLANE1n.1888A>G
c.8889A>G (p.Ala2963=)
n.750A>G
c.8727A>G (p.Ala2909=)
c.5901A>G (n.5901A>G)
n.4070A>G
n.342-3529A>G
c.5925A>G (p.Ala1975=)
c.8886A>G (p.Ala2962=)
c.8778A>G (p.Ala2926=)
c.8760A>G (p.Ala2920=)
c.5532A>G (p.Ala1844=)
c.3462A>G (p.Ala1154=)
c.8835A>G (p.Ala2945=)
c.8781A>G (p.Ala2927=)
c.8571A>G (p.Ala2857=)
c.8217A>G (p.Ala2739=)
c.6114A>G (p.Ala2038=)
n.9064A>G
c.8700A>G (p.Ala2900=)
c.7896A>G (p.Ala2632=)
c.7701A>G (p.Ala2567=)
n.9113A>G
5g.37125313T>GCA443922017CPLANE1n.1888A>C
c.8889A>C (p.Ala2963=)
n.750A>C
c.8727A>C (p.Ala2909=)
c.5901A>C (n.5901A>C)
n.4070A>C
n.342-3529A>C
c.5925A>C (p.Ala1975=)
c.8886A>C (p.Ala2962=)
c.8778A>C (p.Ala2926=)
c.8760A>C (p.Ala2920=)
c.5532A>C (p.Ala1844=)
c.3462A>C (p.Ala1154=)
c.8835A>C (p.Ala2945=)
c.8781A>C (p.Ala2927=)
c.8571A>C (p.Ala2857=)
c.8217A>C (p.Ala2739=)
c.6114A>C (p.Ala2038=)
n.9064A>C
c.8700A>C (p.Ala2900=)
c.7896A>C (p.Ala2632=)
c.7701A>C (p.Ala2567=)
n.9113A>C
5g.37125314G>ACA359499027CPLANE1n.1887C>T
c.8888C>T (p.Ala2963Val)
n.749C>T
c.8726C>T (p.Ala2909Val)
c.5900C>T (n.5900C>T)
n.4069C>T
n.342-3530C>T
c.5924C>T (p.Ala1975Val)
c.8885C>T (p.Ala2962Val)
c.8777C>T (p.Ala2926Val)
c.8759C>T (p.Ala2920Val)
c.5531C>T (p.Ala1844Val)
c.3461C>T (p.Ala1154Val)
c.8834C>T (p.Ala2945Val)
c.8780C>T (p.Ala2927Val)
c.8570C>T (p.Ala2857Val)
c.8216C>T (p.Ala2739Val)
c.6113C>T (p.Ala2038Val)
n.9063C>T
c.8699C>T (p.Ala2900Val)
c.7895C>T (p.Ala2632Val)
c.7700C>T (p.Ala2567Val)
n.9112C>T
5g.37125314G>CCA359499035CPLANE1n.1887C>G
c.8888C>G (p.Ala2963Gly)
n.749C>G
c.8726C>G (p.Ala2909Gly)
c.5900C>G (n.5900C>G)
n.4069C>G
n.342-3530C>G
c.5924C>G (p.Ala1975Gly)
c.8885C>G (p.Ala2962Gly)
c.8777C>G (p.Ala2926Gly)
c.8759C>G (p.Ala2920Gly)
c.5531C>G (p.Ala1844Gly)
c.3461C>G (p.Ala1154Gly)
c.8834C>G (p.Ala2945Gly)
c.8780C>G (p.Ala2927Gly)
c.8570C>G (p.Ala2857Gly)
c.8216C>G (p.Ala2739Gly)
c.6113C>G (p.Ala2038Gly)
n.9063C>G
c.8699C>G (p.Ala2900Gly)
c.7895C>G (p.Ala2632Gly)
c.7700C>G (p.Ala2567Gly)
n.9112C>G
5g.37125314G>TCA359499038CPLANE1n.1887C>A
c.8888C>A (p.Ala2963Glu)
n.749C>A
c.8726C>A (p.Ala2909Glu)
c.5900C>A (n.5900C>A)
n.4069C>A
n.342-3530C>A
c.5924C>A (p.Ala1975Glu)
c.8885C>A (p.Ala2962Glu)
c.8777C>A (p.Ala2926Glu)
c.8759C>A (p.Ala2920Glu)
c.5531C>A (p.Ala1844Glu)
c.3461C>A (p.Ala1154Glu)
c.8834C>A (p.Ala2945Glu)
c.8780C>A (p.Ala2927Glu)
c.8570C>A (p.Ala2857Glu)
c.8216C>A (p.Ala2739Glu)
c.6113C>A (p.Ala2038Glu)
n.9063C>A
c.8699C>A (p.Ala2900Glu)
c.7895C>A (p.Ala2632Glu)
c.7700C>A (p.Ala2567Glu)
n.9112C>A
5g.37125314_37125315delinsGCCA1539667636CPLANE1n.1886_1887delinsGC
c.8887_8888delinsGC (p.Ala2963=)
n.748_749delinsGC
c.8725_8726delinsGC (p.Ala2909=)
c.5899_5900delinsGC (n.5899_5900delinsGC)
n.4068_4069delinsGC
n.342-3531_342-3530delinsGC
c.5923_5924delinsGC (p.Ala1975=)
c.8884_8885delinsGC (p.Ala2962=)
c.8776_8777delinsGC (p.Ala2926=)
c.8758_8759delinsGC (p.Ala2920=)
c.5530_5531delinsGC (p.Ala1844=)
c.3460_3461delinsGC (p.Ala1154=)
c.8833_8834delinsGC (p.Ala2945=)
c.8779_8780delinsGC (p.Ala2927=)
c.8569_8570delinsGC (p.Ala2857=)
c.8215_8216delinsGC (p.Ala2739=)
c.6112_6113delinsGC (p.Ala2038=)
n.9062_9063delinsGC
c.8698_8699delinsGC (p.Ala2900=)
c.7894_7895delinsGC (p.Ala2632=)
c.7699_7700delinsGC (p.Ala2567=)
n.9111_9112delinsGC
5g.37125315C>ACA359499041CPLANE1n.1886G>T
c.8887G>T (p.Ala2963Ser)
n.748G>T
c.8725G>T (p.Ala2909Ser)
c.5899G>T (n.5899G>T)
n.4068G>T
n.342-3531G>T
c.5923G>T (p.Ala1975Ser)
c.8884G>T (p.Ala2962Ser)
c.8776G>T (p.Ala2926Ser)
c.8758G>T (p.Ala2920Ser)
c.5530G>T (p.Ala1844Ser)
c.3460G>T (p.Ala1154Ser)
c.8833G>T (p.Ala2945Ser)
c.8779G>T (p.Ala2927Ser)
c.8569G>T (p.Ala2857Ser)
c.8215G>T (p.Ala2739Ser)
c.6112G>T (p.Ala2038Ser)
n.9062G>T
c.8698G>T (p.Ala2900Ser)
c.7894G>T (p.Ala2632Ser)
c.7699G>T (p.Ala2567Ser)
n.9111G>T
5g.37125315C=CA1539667640CPLANE1n.1886G=
c.8887G= (p.Ala2963=)
n.748G=
c.8725G= (p.Ala2909=)
c.5899G= (n.5899G=)
n.4068G=
n.342-3531G=
c.5923G= (p.Ala1975=)
c.8884G= (p.Ala2962=)
c.8776G= (p.Ala2926=)
c.8758G= (p.Ala2920=)
c.5530G= (p.Ala1844=)
c.3460G= (p.Ala1154=)
c.8833G= (p.Ala2945=)
c.8779G= (p.Ala2927=)
c.8569G= (p.Ala2857=)
c.8215G= (p.Ala2739=)
c.6112G= (p.Ala2038=)
n.9062G=
c.8698G= (p.Ala2900=)
c.7894G= (p.Ala2632=)
c.7699G= (p.Ala2567=)
n.9111G=
5g.37125315C>GCA359499044CPLANE1n.1886G>C
c.8887G>C (p.Ala2963Pro)
n.748G>C
c.8725G>C (p.Ala2909Pro)
c.5899G>C (n.5899G>C)
n.4068G>C
n.342-3531G>C
c.5923G>C (p.Ala1975Pro)
c.8884G>C (p.Ala2962Pro)
c.8776G>C (p.Ala2926Pro)
c.8758G>C (p.Ala2920Pro)
c.5530G>C (p.Ala1844Pro)
c.3460G>C (p.Ala1154Pro)
c.8833G>C (p.Ala2945Pro)
c.8779G>C (p.Ala2927Pro)
c.8569G>C (p.Ala2857Pro)
c.8215G>C (p.Ala2739Pro)
c.6112G>C (p.Ala2038Pro)
n.9062G>C
c.8698G>C (p.Ala2900Pro)
c.7894G>C (p.Ala2632Pro)
c.7699G>C (p.Ala2567Pro)
n.9111G>C
5g.37125315C>TCA359499045CPLANE1n.1886G>A
c.8887G>A (p.Ala2963Thr)
n.748G>A
c.8725G>A (p.Ala2909Thr)
c.5899G>A (n.5899G>A)
n.4068G>A
n.342-3531G>A
c.5923G>A (p.Ala1975Thr)
c.8884G>A (p.Ala2962Thr)
c.8776G>A (p.Ala2926Thr)
c.8758G>A (p.Ala2920Thr)
c.5530G>A (p.Ala1844Thr)
c.3460G>A (p.Ala1154Thr)
c.8833G>A (p.Ala2945Thr)
c.8779G>A (p.Ala2927Thr)
c.8569G>A (p.Ala2857Thr)
c.8215G>A (p.Ala2739Thr)
c.6112G>A (p.Ala2038Thr)
n.9062G>A
c.8698G>A (p.Ala2900Thr)
c.7894G>A (p.Ala2632Thr)
c.7699G>A (p.Ala2567Thr)
n.9111G>A
 dbSNP
5g.37125316delCA277704CPLANE1n.1886del
c.8887del (p.Ala2963GlnfsTer4)
n.748del
c.8725del (p.Ala2909GlnfsTer4)
c.5899del (n.5899del)
n.4068del
n.342-3531del
c.5923del (p.Ala1975GlnfsTer4)
c.8884del (p.Ala2962GlnfsTer4)
c.8776del (p.Ala2926GlnfsTer4)
c.8758del (p.Ala2920GlnfsTer4)
c.5530del (p.Ala1844GlnfsTer4)
c.3460del (p.Ala1154GlnfsTer4)
c.8833del (p.Ala2945GlnfsTer4)
c.8779del (p.Ala2927GlnfsTer4)
c.8569del (p.Ala2857GlnfsTer4)
c.8215del (p.Ala2739GlnfsTer4)
c.6112del (p.Ala2038GlnfsTer4)
n.9062del
c.8698del (p.Ala2900GlnfsTer4)
c.7894del (p.Ala2632GlnfsTer4)
c.7699del (p.Ala2567GlnfsTer4)
n.9111del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125316C>ACA359499046CPLANE1n.1885G>T
c.8886G>T (p.Met2962Ile)
n.747G>T
c.8724G>T (p.Met2908Ile)
c.5898G>T (n.5898G>T)
n.4067G>T
n.342-3532G>T
c.5922G>T (p.Met1974Ile)
c.8883G>T (p.Met2961Ile)
c.8775G>T (p.Met2925Ile)
c.8757G>T (p.Met2919Ile)
c.5529G>T (p.Met1843Ile)
c.3459G>T (p.Met1153Ile)
c.8832G>T (p.Met2944Ile)
c.8778G>T (p.Met2926Ile)
c.8568G>T (p.Met2856Ile)
c.8214G>T (p.Met2738Ile)
c.6111G>T (p.Met2037Ile)
n.9061G>T
c.8697G>T (p.Met2899Ile)
c.7893G>T (p.Met2631Ile)
c.7698G>T (p.Met2566Ile)
n.9110G>T
5g.37125316C>GCA359499047CPLANE1n.1885G>C
c.8886G>C (p.Met2962Ile)
n.747G>C
c.8724G>C (p.Met2908Ile)
c.5898G>C (n.5898G>C)
n.4067G>C
n.342-3532G>C
c.5922G>C (p.Met1974Ile)
c.8883G>C (p.Met2961Ile)
c.8775G>C (p.Met2925Ile)
c.8757G>C (p.Met2919Ile)
c.5529G>C (p.Met1843Ile)
c.3459G>C (p.Met1153Ile)
c.8832G>C (p.Met2944Ile)
c.8778G>C (p.Met2926Ile)
c.8568G>C (p.Met2856Ile)
c.8214G>C (p.Met2738Ile)
c.6111G>C (p.Met2037Ile)
n.9061G>C
c.8697G>C (p.Met2899Ile)
c.7893G>C (p.Met2631Ile)
c.7698G>C (p.Met2566Ile)
n.9110G>C
5g.37125316C>TCA359499049CPLANE1n.1885G>A
c.8886G>A (p.Met2962Ile)
n.747G>A
c.8724G>A (p.Met2908Ile)
c.5898G>A (n.5898G>A)
n.4067G>A
n.342-3532G>A
c.5922G>A (p.Met1974Ile)
c.8883G>A (p.Met2961Ile)
c.8775G>A (p.Met2925Ile)
c.8757G>A (p.Met2919Ile)
c.5529G>A (p.Met1843Ile)
c.3459G>A (p.Met1153Ile)
c.8832G>A (p.Met2944Ile)
c.8778G>A (p.Met2926Ile)
c.8568G>A (p.Met2856Ile)
c.8214G>A (p.Met2738Ile)
c.6111G>A (p.Met2037Ile)
n.9061G>A
c.8697G>A (p.Met2899Ile)
c.7893G>A (p.Met2631Ile)
c.7698G>A (p.Met2566Ile)
n.9110G>A
5g.37125317A=CA1539667642CPLANE1n.1884T=
c.8885T= (p.Met2962=)
n.746T=
c.8723T= (p.Met2908=)
c.5897T= (n.5897T=)
n.4066T=
n.342-3533T=
c.5921T= (p.Met1974=)
c.8882T= (p.Met2961=)
c.8774T= (p.Met2925=)
c.8756T= (p.Met2919=)
c.5528T= (p.Met1843=)
c.3458T= (p.Met1153=)
c.8831T= (p.Met2944=)
c.8777T= (p.Met2926=)
c.8567T= (p.Met2856=)
c.8213T= (p.Met2738=)
c.6110T= (p.Met2037=)
n.9060T=
c.8696T= (p.Met2899=)
c.7892T= (p.Met2631=)
c.7697T= (p.Met2566=)
n.9109T=
5g.37125317A>CCA359499055CPLANE1n.1884T>G
c.8885T>G (p.Met2962Arg)
n.746T>G
c.8723T>G (p.Met2908Arg)
c.5897T>G (n.5897T>G)
n.4066T>G
n.342-3533T>G
c.5921T>G (p.Met1974Arg)
c.8882T>G (p.Met2961Arg)
c.8774T>G (p.Met2925Arg)
c.8756T>G (p.Met2919Arg)
c.5528T>G (p.Met1843Arg)
c.3458T>G (p.Met1153Arg)
c.8831T>G (p.Met2944Arg)
c.8777T>G (p.Met2926Arg)
c.8567T>G (p.Met2856Arg)
c.8213T>G (p.Met2738Arg)
c.6110T>G (p.Met2037Arg)
n.9060T>G
c.8696T>G (p.Met2899Arg)
c.7892T>G (p.Met2631Arg)
c.7697T>G (p.Met2566Arg)
n.9109T>G
5g.37125317A>GCA3237635CPLANE1n.1884T>C
c.8885T>C (p.Met2962Thr)
n.746T>C
c.8723T>C (p.Met2908Thr)
c.5897T>C (n.5897T>C)
n.4066T>C
n.342-3533T>C
c.5921T>C (p.Met1974Thr)
c.8882T>C (p.Met2961Thr)
c.8774T>C (p.Met2925Thr)
c.8756T>C (p.Met2919Thr)
c.5528T>C (p.Met1843Thr)
c.3458T>C (p.Met1153Thr)
c.8831T>C (p.Met2944Thr)
c.8777T>C (p.Met2926Thr)
c.8567T>C (p.Met2856Thr)
c.8213T>C (p.Met2738Thr)
c.6110T>C (p.Met2037Thr)
n.9060T>C
c.8696T>C (p.Met2899Thr)
c.7892T>C (p.Met2631Thr)
c.7697T>C (p.Met2566Thr)
n.9109T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125317A>TCA359499051CPLANE1n.1884T>A
c.8885T>A (p.Met2962Lys)
n.746T>A
c.8723T>A (p.Met2908Lys)
c.5897T>A (n.5897T>A)
n.4066T>A
n.342-3533T>A
c.5921T>A (p.Met1974Lys)
c.8882T>A (p.Met2961Lys)
c.8774T>A (p.Met2925Lys)
c.8756T>A (p.Met2919Lys)
c.5528T>A (p.Met1843Lys)
c.3458T>A (p.Met1153Lys)
c.8831T>A (p.Met2944Lys)
c.8777T>A (p.Met2926Lys)
c.8567T>A (p.Met2856Lys)
c.8213T>A (p.Met2738Lys)
c.6110T>A (p.Met2037Lys)
n.9060T>A
c.8696T>A (p.Met2899Lys)
c.7892T>A (p.Met2631Lys)
c.7697T>A (p.Met2566Lys)
n.9109T>A
5g.37125318T>ACA359499062CPLANE1n.1883A>T
c.8884A>T (p.Met2962Leu)
n.745A>T
c.8722A>T (p.Met2908Leu)
c.5896A>T (n.5896A>T)
n.4065A>T
n.342-3534A>T
c.5920A>T (p.Met1974Leu)
c.8881A>T (p.Met2961Leu)
c.8773A>T (p.Met2925Leu)
c.8755A>T (p.Met2919Leu)
c.5527A>T (p.Met1843Leu)
c.3457A>T (p.Met1153Leu)
c.8830A>T (p.Met2944Leu)
c.8776A>T (p.Met2926Leu)
c.8566A>T (p.Met2856Leu)
c.8212A>T (p.Met2738Leu)
c.6109A>T (p.Met2037Leu)
n.9059A>T
c.8695A>T (p.Met2899Leu)
c.7891A>T (p.Met2631Leu)
c.7696A>T (p.Met2566Leu)
n.9108A>T
 gnomAD v4
5g.37125318T>CCA359499068CPLANE1n.1883A>G
c.8884A>G (p.Met2962Val)
n.745A>G
c.8722A>G (p.Met2908Val)
c.5896A>G (n.5896A>G)
n.4065A>G
n.342-3534A>G
c.5920A>G (p.Met1974Val)
c.8881A>G (p.Met2961Val)
c.8773A>G (p.Met2925Val)
c.8755A>G (p.Met2919Val)
c.5527A>G (p.Met1843Val)
c.3457A>G (p.Met1153Val)
c.8830A>G (p.Met2944Val)
c.8776A>G (p.Met2926Val)
c.8566A>G (p.Met2856Val)
c.8212A>G (p.Met2738Val)
c.6109A>G (p.Met2037Val)
n.9059A>G
c.8695A>G (p.Met2899Val)
c.7891A>G (p.Met2631Val)
c.7696A>G (p.Met2566Val)
n.9108A>G
5g.37125318T>GCA359499067CPLANE1n.1883A>C
c.8884A>C (p.Met2962Leu)
n.745A>C
c.8722A>C (p.Met2908Leu)
c.5896A>C (n.5896A>C)
n.4065A>C
n.342-3534A>C
c.5920A>C (p.Met1974Leu)
c.8881A>C (p.Met2961Leu)
c.8773A>C (p.Met2925Leu)
c.8755A>C (p.Met2919Leu)
c.5527A>C (p.Met1843Leu)
c.3457A>C (p.Met1153Leu)
c.8830A>C (p.Met2944Leu)
c.8776A>C (p.Met2926Leu)
c.8566A>C (p.Met2856Leu)
c.8212A>C (p.Met2738Leu)
c.6109A>C (p.Met2037Leu)
n.9059A>C
c.8695A>C (p.Met2899Leu)
c.7891A>C (p.Met2631Leu)
c.7696A>C (p.Met2566Leu)
n.9108A>C
5g.37125324_37125327delCA645544872CPLANE1n.1880_1883del
c.8881_8884del (p.Arg2961TrpfsTer5)
n.742_745del
c.8719_8722del (p.Arg2907TrpfsTer5)
c.5893_5896del (n.5893_5896del)
n.4062_4065del
n.342-3537_342-3534del
c.5917_5920del (p.Arg1973TrpfsTer5)
c.8878_8881del (p.Arg2960TrpfsTer5)
c.8770_8773del (p.Arg2924TrpfsTer5)
c.8752_8755del (p.Arg2918TrpfsTer5)
c.5524_5527del (p.Arg1842TrpfsTer5)
c.3454_3457del (p.Arg1152TrpfsTer5)
c.8827_8830del (p.Arg2943TrpfsTer5)
c.8773_8776del (p.Arg2925TrpfsTer5)
c.8563_8566del (p.Arg2855TrpfsTer5)
c.8209_8212del (p.Arg2737TrpfsTer5)
c.6106_6109del (p.Arg2036TrpfsTer5)
n.9056_9059del
c.8692_8695del (p.Arg2898TrpfsTer5)
c.7888_7891del (p.Arg2630TrpfsTer5)
c.7693_7696del (p.Arg2565TrpfsTer5)
n.9105_9108del
 COSMIC COSMIC
5g.37125319T>ACA359499071CPLANE1n.1882A>T
c.8883A>T (p.Arg2961Ser)
n.744A>T
c.8721A>T (p.Arg2907Ser)
c.5895A>T (n.5895A>T)
n.4064A>T
n.342-3535A>T
c.5919A>T (p.Arg1973Ser)
c.8880A>T (p.Arg2960Ser)
c.8772A>T (p.Arg2924Ser)
c.8754A>T (p.Arg2918Ser)
c.5526A>T (p.Arg1842Ser)
c.3456A>T (p.Arg1152Ser)
c.8829A>T (p.Arg2943Ser)
c.8775A>T (p.Arg2925Ser)
c.8565A>T (p.Arg2855Ser)
c.8211A>T (p.Arg2737Ser)
c.6108A>T (p.Arg2036Ser)
n.9058A>T
c.8694A>T (p.Arg2898Ser)
c.7890A>T (p.Arg2630Ser)
c.7695A>T (p.Arg2565Ser)
n.9107A>T
5g.37125319T>CCA443922019CPLANE1n.1882A>G
c.8883A>G (p.Arg2961=)
n.744A>G
c.8721A>G (p.Arg2907=)
c.5895A>G (n.5895A>G)
n.4064A>G
n.342-3535A>G
c.5919A>G (p.Arg1973=)
c.8880A>G (p.Arg2960=)
c.8772A>G (p.Arg2924=)
c.8754A>G (p.Arg2918=)
c.5526A>G (p.Arg1842=)
c.3456A>G (p.Arg1152=)
c.8829A>G (p.Arg2943=)
c.8775A>G (p.Arg2925=)
c.8565A>G (p.Arg2855=)
c.8211A>G (p.Arg2737=)
c.6108A>G (p.Arg2036=)
n.9058A>G
c.8694A>G (p.Arg2898=)
c.7890A>G (p.Arg2630=)
c.7695A>G (p.Arg2565=)
n.9107A>G
5g.37125319T>GCA359499074CPLANE1n.1882A>C
c.8883A>C (p.Arg2961Ser)
n.744A>C
c.8721A>C (p.Arg2907Ser)
c.5895A>C (n.5895A>C)
n.4064A>C
n.342-3535A>C
c.5919A>C (p.Arg1973Ser)
c.8880A>C (p.Arg2960Ser)
c.8772A>C (p.Arg2924Ser)
c.8754A>C (p.Arg2918Ser)
c.5526A>C (p.Arg1842Ser)
c.3456A>C (p.Arg1152Ser)
c.8829A>C (p.Arg2943Ser)
c.8775A>C (p.Arg2925Ser)
c.8565A>C (p.Arg2855Ser)
c.8211A>C (p.Arg2737Ser)
c.6108A>C (p.Arg2036Ser)
n.9058A>C
c.8694A>C (p.Arg2898Ser)
c.7890A>C (p.Arg2630Ser)
c.7695A>C (p.Arg2565Ser)
n.9107A>C
5g.37125320C>ACA359499080CPLANE1n.1881G>T
c.8882G>T (p.Arg2961Ile)
n.743G>T
c.8720G>T (p.Arg2907Ile)
c.5894G>T (n.5894G>T)
n.4063G>T
n.342-3536G>T
c.5918G>T (p.Arg1973Ile)
c.8879G>T (p.Arg2960Ile)
c.8771G>T (p.Arg2924Ile)
c.8753G>T (p.Arg2918Ile)
c.5525G>T (p.Arg1842Ile)
c.3455G>T (p.Arg1152Ile)
c.8828G>T (p.Arg2943Ile)
c.8774G>T (p.Arg2925Ile)
c.8564G>T (p.Arg2855Ile)
c.8210G>T (p.Arg2737Ile)
c.6107G>T (p.Arg2036Ile)
n.9057G>T
c.8693G>T (p.Arg2898Ile)
c.7889G>T (p.Arg2630Ile)
c.7694G>T (p.Arg2565Ile)
n.9106G>T
5g.37125320C>GCA359499082CPLANE1n.1881G>C
c.8882G>C (p.Arg2961Thr)
n.743G>C
c.8720G>C (p.Arg2907Thr)
c.5894G>C (n.5894G>C)
n.4063G>C
n.342-3536G>C
c.5918G>C (p.Arg1973Thr)
c.8879G>C (p.Arg2960Thr)
c.8771G>C (p.Arg2924Thr)
c.8753G>C (p.Arg2918Thr)
c.5525G>C (p.Arg1842Thr)
c.3455G>C (p.Arg1152Thr)
c.8828G>C (p.Arg2943Thr)
c.8774G>C (p.Arg2925Thr)
c.8564G>C (p.Arg2855Thr)
c.8210G>C (p.Arg2737Thr)
c.6107G>C (p.Arg2036Thr)
n.9057G>C
c.8693G>C (p.Arg2898Thr)
c.7889G>C (p.Arg2630Thr)
c.7694G>C (p.Arg2565Thr)
n.9106G>C
 gnomAD v4
5g.37125320C>TCA359499085CPLANE1n.1881G>A
c.8882G>A (p.Arg2961Lys)
n.743G>A
c.8720G>A (p.Arg2907Lys)
c.5894G>A (n.5894G>A)
n.4063G>A
n.342-3536G>A
c.5918G>A (p.Arg1973Lys)
c.8879G>A (p.Arg2960Lys)
c.8771G>A (p.Arg2924Lys)
c.8753G>A (p.Arg2918Lys)
c.5525G>A (p.Arg1842Lys)
c.3455G>A (p.Arg1152Lys)
c.8828G>A (p.Arg2943Lys)
c.8774G>A (p.Arg2925Lys)
c.8564G>A (p.Arg2855Lys)
c.8210G>A (p.Arg2737Lys)
c.6107G>A (p.Arg2036Lys)
n.9057G>A
c.8693G>A (p.Arg2898Lys)
c.7889G>A (p.Arg2630Lys)
c.7694G>A (p.Arg2565Lys)
n.9106G>A
5g.37125321T>ACA359499087CPLANE1n.1880A>T
c.8881A>T (p.Arg2961Ter)
n.742A>T
c.8719A>T (p.Arg2907Ter)
c.5893A>T (n.5893A>T)
n.4062A>T
n.342-3537A>T
c.5917A>T (p.Arg1973Ter)
c.8878A>T (p.Arg2960Ter)
c.8770A>T (p.Arg2924Ter)
c.8752A>T (p.Arg2918Ter)
c.5524A>T (p.Arg1842Ter)
c.3454A>T (p.Arg1152Ter)
c.8827A>T (p.Arg2943Ter)
c.8773A>T (p.Arg2925Ter)
c.8563A>T (p.Arg2855Ter)
c.8209A>T (p.Arg2737Ter)
c.6106A>T (p.Arg2036Ter)
n.9056A>T
c.8692A>T (p.Arg2898Ter)
c.7888A>T (p.Arg2630Ter)
c.7693A>T (p.Arg2565Ter)
n.9105A>T
5g.37125321T>CCA3237636CPLANE1n.1880A>G
c.8881A>G (p.Arg2961Gly)
n.742A>G
c.8719A>G (p.Arg2907Gly)
c.5893A>G (n.5893A>G)
n.4062A>G
n.342-3537A>G
c.5917A>G (p.Arg1973Gly)
c.8878A>G (p.Arg2960Gly)
c.8770A>G (p.Arg2924Gly)
c.8752A>G (p.Arg2918Gly)
c.5524A>G (p.Arg1842Gly)
c.3454A>G (p.Arg1152Gly)
c.8827A>G (p.Arg2943Gly)
c.8773A>G (p.Arg2925Gly)
c.8563A>G (p.Arg2855Gly)
c.8209A>G (p.Arg2737Gly)
c.6106A>G (p.Arg2036Gly)
n.9056A>G
c.8692A>G (p.Arg2898Gly)
c.7888A>G (p.Arg2630Gly)
c.7693A>G (p.Arg2565Gly)
n.9105A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125321T>GCA443922020CPLANE1n.1880A>C
c.8881A>C (p.Arg2961=)
n.742A>C
c.8719A>C (p.Arg2907=)
c.5893A>C (n.5893A>C)
n.4062A>C
n.342-3537A>C
c.5917A>C (p.Arg1973=)
c.8878A>C (p.Arg2960=)
c.8770A>C (p.Arg2924=)
c.8752A>C (p.Arg2918=)
c.5524A>C (p.Arg1842=)
c.3454A>C (p.Arg1152=)
c.8827A>C (p.Arg2943=)
c.8773A>C (p.Arg2925=)
c.8563A>C (p.Arg2855=)
c.8209A>C (p.Arg2737=)
c.6106A>C (p.Arg2036=)
n.9056A>C
c.8692A>C (p.Arg2898=)
c.7888A>C (p.Arg2630=)
c.7693A>C (p.Arg2565=)
n.9105A>C
5g.37125321T=CA1539667644CPLANE1n.1880A=
c.8881A= (p.Arg2961=)
n.742A=
c.8719A= (p.Arg2907=)
c.5893A= (n.5893A=)
n.4062A=
n.342-3537A=
c.5917A= (p.Arg1973=)
c.8878A= (p.Arg2960=)
c.8770A= (p.Arg2924=)
c.8752A= (p.Arg2918=)
c.5524A= (p.Arg1842=)
c.3454A= (p.Arg1152=)
c.8827A= (p.Arg2943=)
c.8773A= (p.Arg2925=)
c.8563A= (p.Arg2855=)
c.8209A= (p.Arg2737=)
c.6106A= (p.Arg2036=)
n.9056A=
c.8692A= (p.Arg2898=)
c.7888A= (p.Arg2630=)
c.7693A= (p.Arg2565=)
n.9105A=
5g.37125323delCA2673580098CPLANE1n.1880del
c.8881del (p.Arg2961GlufsTer6)
n.742del
c.8719del (p.Arg2907GlufsTer6)
c.5893del (n.5893del)
n.4062del
n.342-3537del
c.5917del (p.Arg1973GlufsTer6)
c.8878del (p.Arg2960GlufsTer6)
c.8770del (p.Arg2924GlufsTer6)
c.8752del (p.Arg2918GlufsTer6)
c.5524del (p.Arg1842GlufsTer6)
c.3454del (p.Arg1152GlufsTer6)
c.8827del (p.Arg2943GlufsTer6)
c.8773del (p.Arg2925GlufsTer6)
c.8563del (p.Arg2855GlufsTer6)
c.8209del (p.Arg2737GlufsTer6)
c.6106del (p.Arg2036GlufsTer6)
n.9056del
c.8692del (p.Arg2898GlufsTer6)
c.7888del (p.Arg2630GlufsTer6)
c.7693del (p.Arg2565GlufsTer6)
n.9105del
 gnomAD v4
5g.37125322T>ACA359499089CPLANE1n.1879A>T
c.8880A>T (p.Glu2960Asp)
n.741A>T
c.8718A>T (p.Glu2906Asp)
c.5892A>T (n.5892A>T)
n.4061A>T
n.342-3538A>T
c.5916A>T (p.Glu1972Asp)
c.8877A>T (p.Glu2959Asp)
c.8769A>T (p.Glu2923Asp)
c.8751A>T (p.Glu2917Asp)
c.5523A>T (p.Glu1841Asp)
c.3453A>T (p.Glu1151Asp)
c.8826A>T (p.Glu2942Asp)
c.8772A>T (p.Glu2924Asp)
c.8562A>T (p.Glu2854Asp)
c.8208A>T (p.Glu2736Asp)
c.6105A>T (p.Glu2035Asp)
n.9055A>T
c.8691A>T (p.Glu2897Asp)
c.7887A>T (p.Glu2629Asp)
c.7692A>T (p.Glu2564Asp)
n.9104A>T
5g.37125322T>CCA443922021CPLANE1n.1879A>G
c.8880A>G (p.Glu2960=)
n.741A>G
c.8718A>G (p.Glu2906=)
c.5892A>G (n.5892A>G)
n.4061A>G
n.342-3538A>G
c.5916A>G (p.Glu1972=)
c.8877A>G (p.Glu2959=)
c.8769A>G (p.Glu2923=)
c.8751A>G (p.Glu2917=)
c.5523A>G (p.Glu1841=)
c.3453A>G (p.Glu1151=)
c.8826A>G (p.Glu2942=)
c.8772A>G (p.Glu2924=)
c.8562A>G (p.Glu2854=)
c.8208A>G (p.Glu2736=)
c.6105A>G (p.Glu2035=)
n.9055A>G
c.8691A>G (p.Glu2897=)
c.7887A>G (p.Glu2629=)
c.7692A>G (p.Glu2564=)
n.9104A>G
5g.37125322T>GCA359499092CPLANE1n.1879A>C
c.8880A>C (p.Glu2960Asp)
n.741A>C
c.8718A>C (p.Glu2906Asp)
c.5892A>C (n.5892A>C)
n.4061A>C
n.342-3538A>C
c.5916A>C (p.Glu1972Asp)
c.8877A>C (p.Glu2959Asp)
c.8769A>C (p.Glu2923Asp)
c.8751A>C (p.Glu2917Asp)
c.5523A>C (p.Glu1841Asp)
c.3453A>C (p.Glu1151Asp)
c.8826A>C (p.Glu2942Asp)
c.8772A>C (p.Glu2924Asp)
c.8562A>C (p.Glu2854Asp)
c.8208A>C (p.Glu2736Asp)
c.6105A>C (p.Glu2035Asp)
n.9055A>C
c.8691A>C (p.Glu2897Asp)
c.7887A>C (p.Glu2629Asp)
c.7692A>C (p.Glu2564Asp)
n.9104A>C
5g.37125323T>ACA359499095CPLANE1n.1878A>T
c.8879A>T (p.Glu2960Val)
n.740A>T
c.8717A>T (p.Glu2906Val)
c.5891A>T (n.5891A>T)
n.4060A>T
n.342-3539A>T
c.5915A>T (p.Glu1972Val)
c.8876A>T (p.Glu2959Val)
c.8768A>T (p.Glu2923Val)
c.8750A>T (p.Glu2917Val)
c.5522A>T (p.Glu1841Val)
c.3452A>T (p.Glu1151Val)
c.8825A>T (p.Glu2942Val)
c.8771A>T (p.Glu2924Val)
c.8561A>T (p.Glu2854Val)
c.8207A>T (p.Glu2736Val)
c.6104A>T (p.Glu2035Val)
n.9054A>T
c.8690A>T (p.Glu2897Val)
c.7886A>T (p.Glu2629Val)
c.7691A>T (p.Glu2564Val)
n.9103A>T
5g.37125323T>CCA359499100CPLANE1n.1878A>G
c.8879A>G (p.Glu2960Gly)
n.740A>G
c.8717A>G (p.Glu2906Gly)
c.5891A>G (n.5891A>G)
n.4060A>G
n.342-3539A>G
c.5915A>G (p.Glu1972Gly)
c.8876A>G (p.Glu2959Gly)
c.8768A>G (p.Glu2923Gly)
c.8750A>G (p.Glu2917Gly)
c.5522A>G (p.Glu1841Gly)
c.3452A>G (p.Glu1151Gly)
c.8825A>G (p.Glu2942Gly)
c.8771A>G (p.Glu2924Gly)
c.8561A>G (p.Glu2854Gly)
c.8207A>G (p.Glu2736Gly)
c.6104A>G (p.Glu2035Gly)
n.9054A>G
c.8690A>G (p.Glu2897Gly)
c.7886A>G (p.Glu2629Gly)
c.7691A>G (p.Glu2564Gly)
n.9103A>G
 dbSNP gnomAD v2 gnomAD v4
5g.37125323T>GCA359499102CPLANE1n.1878A>C
c.8879A>C (p.Glu2960Ala)
n.740A>C
c.8717A>C (p.Glu2906Ala)
c.5891A>C (n.5891A>C)
n.4060A>C
n.342-3539A>C
c.5915A>C (p.Glu1972Ala)
c.8876A>C (p.Glu2959Ala)
c.8768A>C (p.Glu2923Ala)
c.8750A>C (p.Glu2917Ala)
c.5522A>C (p.Glu1841Ala)
c.3452A>C (p.Glu1151Ala)
c.8825A>C (p.Glu2942Ala)
c.8771A>C (p.Glu2924Ala)
c.8561A>C (p.Glu2854Ala)
c.8207A>C (p.Glu2736Ala)
c.6104A>C (p.Glu2035Ala)
n.9054A>C
c.8690A>C (p.Glu2897Ala)
c.7886A>C (p.Glu2629Ala)
c.7691A>C (p.Glu2564Ala)
n.9103A>C
5g.37125323T=CA1539667647CPLANE1n.1878A=
c.8879A= (p.Glu2960=)
n.740A=
c.8717A= (p.Glu2906=)
c.5891A= (n.5891A=)
n.4060A=
n.342-3539A=
c.5915A= (p.Glu1972=)
c.8876A= (p.Glu2959=)
c.8768A= (p.Glu2923=)
c.8750A= (p.Glu2917=)
c.5522A= (p.Glu1841=)
c.3452A= (p.Glu1151=)
c.8825A= (p.Glu2942=)
c.8771A= (p.Glu2924=)
c.8561A= (p.Glu2854=)
c.8207A= (p.Glu2736=)
c.6104A= (p.Glu2035=)
n.9054A=
c.8690A= (p.Glu2897=)
c.7886A= (p.Glu2629=)
c.7691A= (p.Glu2564=)
n.9103A=
5g.37125324C>ACA279349CPLANE1n.1877G>T
c.8878G>T (p.Glu2960Ter)
n.739G>T
c.8716G>T (p.Glu2906Ter)
c.5890G>T (n.5890G>T)
n.4059G>T
n.342-3540G>T
c.5914G>T (p.Glu1972Ter)
c.8875G>T (p.Glu2959Ter)
c.8767G>T (p.Glu2923Ter)
c.8749G>T (p.Glu2917Ter)
c.5521G>T (p.Glu1841Ter)
c.3451G>T (p.Glu1151Ter)
c.8824G>T (p.Glu2942Ter)
c.8770G>T (p.Glu2924Ter)
c.8560G>T (p.Glu2854Ter)
c.8206G>T (p.Glu2736Ter)
c.6103G>T (p.Glu2035Ter)
n.9053G>T
c.8689G>T (p.Glu2897Ter)
c.7885G>T (p.Glu2629Ter)
c.7690G>T (p.Glu2564Ter)
n.9102G>T
 ClinVar dbSNP COSMIC COSMIC
5g.37125324C=CA1539667650CPLANE1n.1877G=
c.8878G= (p.Glu2960=)
n.739G=
c.8716G= (p.Glu2906=)
c.5890G= (n.5890G=)
n.4059G=
n.342-3540G=
c.5914G= (p.Glu1972=)
c.8875G= (p.Glu2959=)
c.8767G= (p.Glu2923=)
c.8749G= (p.Glu2917=)
c.5521G= (p.Glu1841=)
c.3451G= (p.Glu1151=)
c.8824G= (p.Glu2942=)
c.8770G= (p.Glu2924=)
c.8560G= (p.Glu2854=)
c.8206G= (p.Glu2736=)
c.6103G= (p.Glu2035=)
n.9053G=
c.8689G= (p.Glu2897=)
c.7885G= (p.Glu2629=)
c.7690G= (p.Glu2564=)
n.9102G=
5g.37125324C>GCA359499108CPLANE1n.1877G>C
c.8878G>C (p.Glu2960Gln)
n.739G>C
c.8716G>C (p.Glu2906Gln)
c.5890G>C (n.5890G>C)
n.4059G>C
n.342-3540G>C
c.5914G>C (p.Glu1972Gln)
c.8875G>C (p.Glu2959Gln)
c.8767G>C (p.Glu2923Gln)
c.8749G>C (p.Glu2917Gln)
c.5521G>C (p.Glu1841Gln)
c.3451G>C (p.Glu1151Gln)
c.8824G>C (p.Glu2942Gln)
c.8770G>C (p.Glu2924Gln)
c.8560G>C (p.Glu2854Gln)
c.8206G>C (p.Glu2736Gln)
c.6103G>C (p.Glu2035Gln)
n.9053G>C
c.8689G>C (p.Glu2897Gln)
c.7885G>C (p.Glu2629Gln)
c.7690G>C (p.Glu2564Gln)
n.9102G>C
5g.37125324C>TCA359499116CPLANE1n.1877G>A
c.8878G>A (p.Glu2960Lys)
n.739G>A
c.8716G>A (p.Glu2906Lys)
c.5890G>A (n.5890G>A)
n.4059G>A
n.342-3540G>A
c.5914G>A (p.Glu1972Lys)
c.8875G>A (p.Glu2959Lys)
c.8767G>A (p.Glu2923Lys)
c.8749G>A (p.Glu2917Lys)
c.5521G>A (p.Glu1841Lys)
c.3451G>A (p.Glu1151Lys)
c.8824G>A (p.Glu2942Lys)
c.8770G>A (p.Glu2924Lys)
c.8560G>A (p.Glu2854Lys)
c.8206G>A (p.Glu2736Lys)
c.6103G>A (p.Glu2035Lys)
n.9053G>A
c.8689G>A (p.Glu2897Lys)
c.7885G>A (p.Glu2629Lys)
c.7690G>A (p.Glu2564Lys)
n.9102G>A
5g.37125325T>ACA359499120CPLANE1n.1876A>T
c.8877A>T (p.Lys2959Asn)
n.738A>T
c.8715A>T (p.Lys2905Asn)
c.5889A>T (n.5889A>T)
n.4058A>T
n.342-3541A>T
c.5913A>T (p.Lys1971Asn)
c.8874A>T (p.Lys2958Asn)
c.8766A>T (p.Lys2922Asn)
c.8748A>T (p.Lys2916Asn)
c.5520A>T (p.Lys1840Asn)
c.3450A>T (p.Lys1150Asn)
c.8823A>T (p.Lys2941Asn)
c.8769A>T (p.Lys2923Asn)
c.8559A>T (p.Lys2853Asn)
c.8205A>T (p.Lys2735Asn)
c.6102A>T (p.Lys2034Asn)
n.9052A>T
c.8688A>T (p.Lys2896Asn)
c.7884A>T (p.Lys2628Asn)
c.7689A>T (p.Lys2563Asn)
n.9101A>T
5g.37125325T>CCA443922023CPLANE1n.1876A>G
c.8877A>G (p.Lys2959=)
n.738A>G
c.8715A>G (p.Lys2905=)
c.5889A>G (n.5889A>G)
n.4058A>G
n.342-3541A>G
c.5913A>G (p.Lys1971=)
c.8874A>G (p.Lys2958=)
c.8766A>G (p.Lys2922=)
c.8748A>G (p.Lys2916=)
c.5520A>G (p.Lys1840=)
c.3450A>G (p.Lys1150=)
c.8823A>G (p.Lys2941=)
c.8769A>G (p.Lys2923=)
c.8559A>G (p.Lys2853=)
c.8205A>G (p.Lys2735=)
c.6102A>G (p.Lys2034=)
n.9052A>G
c.8688A>G (p.Lys2896=)
c.7884A>G (p.Lys2628=)
c.7689A>G (p.Lys2563=)
n.9101A>G
 gnomAD v4
5g.37125325T>GCA117059236CPLANE1n.1876A>C
c.8877A>C (p.Lys2959Asn)
n.738A>C
c.8715A>C (p.Lys2905Asn)
c.5889A>C (n.5889A>C)
n.4058A>C
n.342-3541A>C
c.5913A>C (p.Lys1971Asn)
c.8874A>C (p.Lys2958Asn)
c.8766A>C (p.Lys2922Asn)
c.8748A>C (p.Lys2916Asn)
c.5520A>C (p.Lys1840Asn)
c.3450A>C (p.Lys1150Asn)
c.8823A>C (p.Lys2941Asn)
c.8769A>C (p.Lys2923Asn)
c.8559A>C (p.Lys2853Asn)
c.8205A>C (p.Lys2735Asn)
c.6102A>C (p.Lys2034Asn)
n.9052A>C
c.8688A>C (p.Lys2896Asn)
c.7884A>C (p.Lys2628Asn)
c.7689A>C (p.Lys2563Asn)
n.9101A>C
 dbSNP
5g.37125325T=CA1539667653CPLANE1n.1876A=
c.8877A= (p.Lys2959=)
n.738A=
c.8715A= (p.Lys2905=)
c.5889A= (n.5889A=)
n.4058A=
n.342-3541A=
c.5913A= (p.Lys1971=)
c.8874A= (p.Lys2958=)
c.8766A= (p.Lys2922=)
c.8748A= (p.Lys2916=)
c.5520A= (p.Lys1840=)
c.3450A= (p.Lys1150=)
c.8823A= (p.Lys2941=)
c.8769A= (p.Lys2923=)
c.8559A= (p.Lys2853=)
c.8205A= (p.Lys2735=)
c.6102A= (p.Lys2034=)
n.9052A=
c.8688A= (p.Lys2896=)
c.7884A= (p.Lys2628=)
c.7689A= (p.Lys2563=)
n.9101A=
5g.37125326T>ACA359499126CPLANE1n.1875A>T
c.8876A>T (p.Lys2959Ile)
n.737A>T
c.8714A>T (p.Lys2905Ile)
c.5888A>T (n.5888A>T)
n.4057A>T
n.342-3542A>T
c.5912A>T (p.Lys1971Ile)
c.8873A>T (p.Lys2958Ile)
c.8765A>T (p.Lys2922Ile)
c.8747A>T (p.Lys2916Ile)
c.5519A>T (p.Lys1840Ile)
c.3449A>T (p.Lys1150Ile)
c.8822A>T (p.Lys2941Ile)
c.8768A>T (p.Lys2923Ile)
c.8558A>T (p.Lys2853Ile)
c.8204A>T (p.Lys2735Ile)
c.6101A>T (p.Lys2034Ile)
n.9051A>T
c.8687A>T (p.Lys2896Ile)
c.7883A>T (p.Lys2628Ile)
c.7688A>T (p.Lys2563Ile)
n.9100A>T
5g.37125326T>CCA359499127CPLANE1n.1875A>G
c.8876A>G (p.Lys2959Arg)
n.737A>G
c.8714A>G (p.Lys2905Arg)
c.5888A>G (n.5888A>G)
n.4057A>G
n.342-3542A>G
c.5912A>G (p.Lys1971Arg)
c.8873A>G (p.Lys2958Arg)
c.8765A>G (p.Lys2922Arg)
c.8747A>G (p.Lys2916Arg)
c.5519A>G (p.Lys1840Arg)
c.3449A>G (p.Lys1150Arg)
c.8822A>G (p.Lys2941Arg)
c.8768A>G (p.Lys2923Arg)
c.8558A>G (p.Lys2853Arg)
c.8204A>G (p.Lys2735Arg)
c.6101A>G (p.Lys2034Arg)
n.9051A>G
c.8687A>G (p.Lys2896Arg)
c.7883A>G (p.Lys2628Arg)
c.7688A>G (p.Lys2563Arg)
n.9100A>G
5g.37125326T>GCA359499133CPLANE1n.1875A>C
c.8876A>C (p.Lys2959Thr)
n.737A>C
c.8714A>C (p.Lys2905Thr)
c.5888A>C (n.5888A>C)
n.4057A>C
n.342-3542A>C
c.5912A>C (p.Lys1971Thr)
c.8873A>C (p.Lys2958Thr)
c.8765A>C (p.Lys2922Thr)
c.8747A>C (p.Lys2916Thr)
c.5519A>C (p.Lys1840Thr)
c.3449A>C (p.Lys1150Thr)
c.8822A>C (p.Lys2941Thr)
c.8768A>C (p.Lys2923Thr)
c.8558A>C (p.Lys2853Thr)
c.8204A>C (p.Lys2735Thr)
c.6101A>C (p.Lys2034Thr)
n.9051A>C
c.8687A>C (p.Lys2896Thr)
c.7883A>C (p.Lys2628Thr)
c.7688A>C (p.Lys2563Thr)
n.9100A>C
5g.37125327T>ACA359499136CPLANE1n.1874A>T
c.8875A>T (p.Lys2959Ter)
n.736A>T
c.8713A>T (p.Lys2905Ter)
c.5887A>T (n.5887A>T)
n.4056A>T
n.342-3543A>T
c.5911A>T (p.Lys1971Ter)
c.8872A>T (p.Lys2958Ter)
c.8764A>T (p.Lys2922Ter)
c.8746A>T (p.Lys2916Ter)
c.5518A>T (p.Lys1840Ter)
c.3448A>T (p.Lys1150Ter)
c.8821A>T (p.Lys2941Ter)
c.8767A>T (p.Lys2923Ter)
c.8557A>T (p.Lys2853Ter)
c.8203A>T (p.Lys2735Ter)
c.6100A>T (p.Lys2034Ter)
n.9050A>T
c.8686A>T (p.Lys2896Ter)
c.7882A>T (p.Lys2628Ter)
c.7687A>T (p.Lys2563Ter)
n.9099A>T
5g.37125327T>CCA359499143CPLANE1n.1874A>G
c.8875A>G (p.Lys2959Glu)
n.736A>G
c.8713A>G (p.Lys2905Glu)
c.5887A>G (n.5887A>G)
n.4056A>G
n.342-3543A>G
c.5911A>G (p.Lys1971Glu)
c.8872A>G (p.Lys2958Glu)
c.8764A>G (p.Lys2922Glu)
c.8746A>G (p.Lys2916Glu)
c.5518A>G (p.Lys1840Glu)
c.3448A>G (p.Lys1150Glu)
c.8821A>G (p.Lys2941Glu)
c.8767A>G (p.Lys2923Glu)
c.8557A>G (p.Lys2853Glu)
c.8203A>G (p.Lys2735Glu)
c.6100A>G (p.Lys2034Glu)
n.9050A>G
c.8686A>G (p.Lys2896Glu)
c.7882A>G (p.Lys2628Glu)
c.7687A>G (p.Lys2563Glu)
n.9099A>G
5g.37125327T>GCA359499146CPLANE1n.1874A>C
c.8875A>C (p.Lys2959Gln)
n.736A>C
c.8713A>C (p.Lys2905Gln)
c.5887A>C (n.5887A>C)
n.4056A>C
n.342-3543A>C
c.5911A>C (p.Lys1971Gln)
c.8872A>C (p.Lys2958Gln)
c.8764A>C (p.Lys2922Gln)
c.8746A>C (p.Lys2916Gln)
c.5518A>C (p.Lys1840Gln)
c.3448A>C (p.Lys1150Gln)
c.8821A>C (p.Lys2941Gln)
c.8767A>C (p.Lys2923Gln)
c.8557A>C (p.Lys2853Gln)
c.8203A>C (p.Lys2735Gln)
c.6100A>C (p.Lys2034Gln)
n.9050A>C
c.8686A>C (p.Lys2896Gln)
c.7882A>C (p.Lys2628Gln)
c.7687A>C (p.Lys2563Gln)
n.9099A>C
5g.37125328T>ACA443922025CPLANE1n.1873A>T
c.8874A>T (p.Arg2958=)
n.735A>T
c.8712A>T (p.Arg2904=)
c.5886A>T (n.5886A>T)
n.4055A>T
n.342-3544A>T
c.5910A>T (p.Arg1970=)
c.8871A>T (p.Arg2957=)
c.8763A>T (p.Arg2921=)
c.8745A>T (p.Arg2915=)
c.5517A>T (p.Arg1839=)
c.3447A>T (p.Arg1149=)
c.8820A>T (p.Arg2940=)
c.8766A>T (p.Arg2922=)
c.8556A>T (p.Arg2852=)
c.8202A>T (p.Arg2734=)
c.6099A>T (p.Arg2033=)
n.9049A>T
c.8685A>T (p.Arg2895=)
c.7881A>T (p.Arg2627=)
c.7686A>T (p.Arg2562=)
n.9098A>T
5g.37125328T>CCA443922027CPLANE1n.1873A>G
c.8874A>G (p.Arg2958=)
n.735A>G
c.8712A>G (p.Arg2904=)
c.5886A>G (n.5886A>G)
n.4055A>G
n.342-3544A>G
c.5910A>G (p.Arg1970=)
c.8871A>G (p.Arg2957=)
c.8763A>G (p.Arg2921=)
c.8745A>G (p.Arg2915=)
c.5517A>G (p.Arg1839=)
c.3447A>G (p.Arg1149=)
c.8820A>G (p.Arg2940=)
c.8766A>G (p.Arg2922=)
c.8556A>G (p.Arg2852=)
c.8202A>G (p.Arg2734=)
c.6099A>G (p.Arg2033=)
n.9049A>G
c.8685A>G (p.Arg2895=)
c.7881A>G (p.Arg2627=)
c.7686A>G (p.Arg2562=)
n.9098A>G
 ClinVar dbSNP gnomAD v4
5g.37125328T>GCA443922026CPLANE1n.1873A>C
c.8874A>C (p.Arg2958=)
n.735A>C
c.8712A>C (p.Arg2904=)
c.5886A>C (n.5886A>C)
n.4055A>C
n.342-3544A>C
c.5910A>C (p.Arg1970=)
c.8871A>C (p.Arg2957=)
c.8763A>C (p.Arg2921=)
c.8745A>C (p.Arg2915=)
c.5517A>C (p.Arg1839=)
c.3447A>C (p.Arg1149=)
c.8820A>C (p.Arg2940=)
c.8766A>C (p.Arg2922=)
c.8556A>C (p.Arg2852=)
c.8202A>C (p.Arg2734=)
c.6099A>C (p.Arg2033=)
n.9049A>C
c.8685A>C (p.Arg2895=)
c.7881A>C (p.Arg2627=)
c.7686A>C (p.Arg2562=)
n.9098A>C
5g.37125329C>ACA359499147CPLANE1n.1872G>T
c.8873G>T (p.Arg2958Leu)
n.734G>T
c.8711G>T (p.Arg2904Leu)
c.5885G>T (n.5885G>T)
n.4054G>T
n.342-3545G>T
c.5909G>T (p.Arg1970Leu)
c.8870G>T (p.Arg2957Leu)
c.8762G>T (p.Arg2921Leu)
c.8744G>T (p.Arg2915Leu)
c.5516G>T (p.Arg1839Leu)
c.3446G>T (p.Arg1149Leu)
c.8819G>T (p.Arg2940Leu)
c.8765G>T (p.Arg2922Leu)
c.8555G>T (p.Arg2852Leu)
c.8201G>T (p.Arg2734Leu)
c.6098G>T (p.Arg2033Leu)
n.9048G>T
c.8684G>T (p.Arg2895Leu)
c.7880G>T (p.Arg2627Leu)
c.7685G>T (p.Arg2562Leu)
n.9097G>T
5g.37125329C=CA1539667655CPLANE1n.1872G=
c.8873G= (p.Arg2958=)
n.734G=
c.8711G= (p.Arg2904=)
c.5885G= (n.5885G=)
n.4054G=
n.342-3545G=
c.5909G= (p.Arg1970=)
c.8870G= (p.Arg2957=)
c.8762G= (p.Arg2921=)
c.8744G= (p.Arg2915=)
c.5516G= (p.Arg1839=)
c.3446G= (p.Arg1149=)
c.8819G= (p.Arg2940=)
c.8765G= (p.Arg2922=)
c.8555G= (p.Arg2852=)
c.8201G= (p.Arg2734=)
c.6098G= (p.Arg2033=)
n.9048G=
c.8684G= (p.Arg2895=)
c.7880G= (p.Arg2627=)
c.7685G= (p.Arg2562=)
n.9097G=
5g.37125329C>GCA359499151CPLANE1n.1872G>C
c.8873G>C (p.Arg2958Pro)
n.734G>C
c.8711G>C (p.Arg2904Pro)
c.5885G>C (n.5885G>C)
n.4054G>C
n.342-3545G>C
c.5909G>C (p.Arg1970Pro)
c.8870G>C (p.Arg2957Pro)
c.8762G>C (p.Arg2921Pro)
c.8744G>C (p.Arg2915Pro)
c.5516G>C (p.Arg1839Pro)
c.3446G>C (p.Arg1149Pro)
c.8819G>C (p.Arg2940Pro)
c.8765G>C (p.Arg2922Pro)
c.8555G>C (p.Arg2852Pro)
c.8201G>C (p.Arg2734Pro)
c.6098G>C (p.Arg2033Pro)
n.9048G>C
c.8684G>C (p.Arg2895Pro)
c.7880G>C (p.Arg2627Pro)
c.7685G>C (p.Arg2562Pro)
n.9097G>C
5g.37125329C>TCA3237637CPLANE1n.1872G>A
c.8873G>A (p.Arg2958Gln)
n.734G>A
c.8711G>A (p.Arg2904Gln)
c.5885G>A (n.5885G>A)
n.4054G>A
n.342-3545G>A
c.5909G>A (p.Arg1970Gln)
c.8870G>A (p.Arg2957Gln)
c.8762G>A (p.Arg2921Gln)
c.8744G>A (p.Arg2915Gln)
c.5516G>A (p.Arg1839Gln)
c.3446G>A (p.Arg1149Gln)
c.8819G>A (p.Arg2940Gln)
c.8765G>A (p.Arg2922Gln)
c.8555G>A (p.Arg2852Gln)
c.8201G>A (p.Arg2734Gln)
c.6098G>A (p.Arg2033Gln)
n.9048G>A
c.8684G>A (p.Arg2895Gln)
c.7880G>A (p.Arg2627Gln)
c.7685G>A (p.Arg2562Gln)
n.9097G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125330G>ACA277713CPLANE1n.1871C>T
c.8872C>T (p.Arg2958Ter)
n.733C>T
c.8710C>T (p.Arg2904Ter)
c.5884C>T (n.5884C>T)
n.4053C>T
n.342-3546C>T
c.5908C>T (p.Arg1970Ter)
c.8869C>T (p.Arg2957Ter)
c.8761C>T (p.Arg2921Ter)
c.8743C>T (p.Arg2915Ter)
c.5515C>T (p.Arg1839Ter)
c.3445C>T (p.Arg1149Ter)
c.8818C>T (p.Arg2940Ter)
c.8764C>T (p.Arg2922Ter)
c.8554C>T (p.Arg2852Ter)
c.8200C>T (p.Arg2734Ter)
c.6097C>T (p.Arg2033Ter)
n.9047C>T
c.8683C>T (p.Arg2895Ter)
c.7879C>T (p.Arg2627Ter)
c.7684C>T (p.Arg2562Ter)
n.9096C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125330G>CCA359499156CPLANE1n.1871C>G
c.8872C>G (p.Arg2958Gly)
n.733C>G
c.8710C>G (p.Arg2904Gly)
c.5884C>G (n.5884C>G)
n.4053C>G
n.342-3546C>G
c.5908C>G (p.Arg1970Gly)
c.8869C>G (p.Arg2957Gly)
c.8761C>G (p.Arg2921Gly)
c.8743C>G (p.Arg2915Gly)
c.5515C>G (p.Arg1839Gly)
c.3445C>G (p.Arg1149Gly)
c.8818C>G (p.Arg2940Gly)
c.8764C>G (p.Arg2922Gly)
c.8554C>G (p.Arg2852Gly)
c.8200C>G (p.Arg2734Gly)
c.6097C>G (p.Arg2033Gly)
n.9047C>G
c.8683C>G (p.Arg2895Gly)
c.7879C>G (p.Arg2627Gly)
c.7684C>G (p.Arg2562Gly)
n.9096C>G
5g.37125330G=CA1539667657CPLANE1n.1871C=
c.8872C= (p.Arg2958=)
n.733C=
c.8710C= (p.Arg2904=)
c.5884C= (n.5884C=)
n.4053C=
n.342-3546C=
c.5908C= (p.Arg1970=)
c.8869C= (p.Arg2957=)
c.8761C= (p.Arg2921=)
c.8743C= (p.Arg2915=)
c.5515C= (p.Arg1839=)
c.3445C= (p.Arg1149=)
c.8818C= (p.Arg2940=)
c.8764C= (p.Arg2922=)
c.8554C= (p.Arg2852=)
c.8200C= (p.Arg2734=)
c.6097C= (p.Arg2033=)
n.9047C=
c.8683C= (p.Arg2895=)
c.7879C= (p.Arg2627=)
c.7684C= (p.Arg2562=)
n.9096C=
5g.37125330G>TCA443922028CPLANE1n.1871C>A
c.8872C>A (p.Arg2958=)
n.733C>A
c.8710C>A (p.Arg2904=)
c.5884C>A (n.5884C>A)
n.4053C>A
n.342-3546C>A
c.5908C>A (p.Arg1970=)
c.8869C>A (p.Arg2957=)
c.8761C>A (p.Arg2921=)
c.8743C>A (p.Arg2915=)
c.5515C>A (p.Arg1839=)
c.3445C>A (p.Arg1149=)
c.8818C>A (p.Arg2940=)
c.8764C>A (p.Arg2922=)
c.8554C>A (p.Arg2852=)
c.8200C>A (p.Arg2734=)
c.6097C>A (p.Arg2033=)
n.9047C>A
c.8683C>A (p.Arg2895=)
c.7879C>A (p.Arg2627=)
c.7684C>A (p.Arg2562=)
n.9096C>A
 dbSNP
5g.37125331T>ACA359499160CPLANE1n.1870A>T
c.8871A>T (p.Lys2957Asn)
n.732A>T
c.8709A>T (p.Lys2903Asn)
c.5883A>T (n.5883A>T)
n.4052A>T
n.342-3547A>T
c.5907A>T (p.Lys1969Asn)
c.8868A>T (p.Lys2956Asn)
c.8760A>T (p.Lys2920Asn)
c.8742A>T (p.Lys2914Asn)
c.5514A>T (p.Lys1838Asn)
c.3444A>T (p.Lys1148Asn)
c.8817A>T (p.Lys2939Asn)
c.8763A>T (p.Lys2921Asn)
c.8553A>T (p.Lys2851Asn)
c.8199A>T (p.Lys2733Asn)
c.6096A>T (p.Lys2032Asn)
n.9046A>T
c.8682A>T (p.Lys2894Asn)
c.7878A>T (p.Lys2626Asn)
c.7683A>T (p.Lys2561Asn)
n.9095A>T
5g.37125331T>CCA443922029CPLANE1n.1870A>G
c.8871A>G (p.Lys2957=)
n.732A>G
c.8709A>G (p.Lys2903=)
c.5883A>G (n.5883A>G)
n.4052A>G
n.342-3547A>G
c.5907A>G (p.Lys1969=)
c.8868A>G (p.Lys2956=)
c.8760A>G (p.Lys2920=)
c.8742A>G (p.Lys2914=)
c.5514A>G (p.Lys1838=)
c.3444A>G (p.Lys1148=)
c.8817A>G (p.Lys2939=)
c.8763A>G (p.Lys2921=)
c.8553A>G (p.Lys2851=)
c.8199A>G (p.Lys2733=)
c.6096A>G (p.Lys2032=)
n.9046A>G
c.8682A>G (p.Lys2894=)
c.7878A>G (p.Lys2626=)
c.7683A>G (p.Lys2561=)
n.9095A>G
5g.37125331T>GCA359499163CPLANE1n.1870A>C
c.8871A>C (p.Lys2957Asn)
n.732A>C
c.8709A>C (p.Lys2903Asn)
c.5883A>C (n.5883A>C)
n.4052A>C
n.342-3547A>C
c.5907A>C (p.Lys1969Asn)
c.8868A>C (p.Lys2956Asn)
c.8760A>C (p.Lys2920Asn)
c.8742A>C (p.Lys2914Asn)
c.5514A>C (p.Lys1838Asn)
c.3444A>C (p.Lys1148Asn)
c.8817A>C (p.Lys2939Asn)
c.8763A>C (p.Lys2921Asn)
c.8553A>C (p.Lys2851Asn)
c.8199A>C (p.Lys2733Asn)
c.6096A>C (p.Lys2032Asn)
n.9046A>C
c.8682A>C (p.Lys2894Asn)
c.7878A>C (p.Lys2626Asn)
c.7683A>C (p.Lys2561Asn)
n.9095A>C
5g.37125332T>ACA359499166CPLANE1n.1869A>T
c.8870A>T (p.Lys2957Ile)
n.731A>T
c.8708A>T (p.Lys2903Ile)
c.5882A>T (n.5882A>T)
n.4051A>T
n.342-3548A>T
c.5906A>T (p.Lys1969Ile)
c.8867A>T (p.Lys2956Ile)
c.8759A>T (p.Lys2920Ile)
c.8741A>T (p.Lys2914Ile)
c.5513A>T (p.Lys1838Ile)
c.3443A>T (p.Lys1148Ile)
c.8816A>T (p.Lys2939Ile)
c.8762A>T (p.Lys2921Ile)
c.8552A>T (p.Lys2851Ile)
c.8198A>T (p.Lys2733Ile)
c.6095A>T (p.Lys2032Ile)
n.9045A>T
c.8681A>T (p.Lys2894Ile)
c.7877A>T (p.Lys2626Ile)
c.7682A>T (p.Lys2561Ile)
n.9094A>T
5g.37125332T>CCA359499177CPLANE1n.1869A>G
c.8870A>G (p.Lys2957Arg)
n.731A>G
c.8708A>G (p.Lys2903Arg)
c.5882A>G (n.5882A>G)
n.4051A>G
n.342-3548A>G
c.5906A>G (p.Lys1969Arg)
c.8867A>G (p.Lys2956Arg)
c.8759A>G (p.Lys2920Arg)
c.8741A>G (p.Lys2914Arg)
c.5513A>G (p.Lys1838Arg)
c.3443A>G (p.Lys1148Arg)
c.8816A>G (p.Lys2939Arg)
c.8762A>G (p.Lys2921Arg)
c.8552A>G (p.Lys2851Arg)
c.8198A>G (p.Lys2733Arg)
c.6095A>G (p.Lys2032Arg)
n.9045A>G
c.8681A>G (p.Lys2894Arg)
c.7877A>G (p.Lys2626Arg)
c.7682A>G (p.Lys2561Arg)
n.9094A>G
 ClinVar dbSNP gnomAD v4
5g.37125332T>GCA359499181CPLANE1n.1869A>C
c.8870A>C (p.Lys2957Thr)
n.731A>C
c.8708A>C (p.Lys2903Thr)
c.5882A>C (n.5882A>C)
n.4051A>C
n.342-3548A>C
c.5906A>C (p.Lys1969Thr)
c.8867A>C (p.Lys2956Thr)
c.8759A>C (p.Lys2920Thr)
c.8741A>C (p.Lys2914Thr)
c.5513A>C (p.Lys1838Thr)
c.3443A>C (p.Lys1148Thr)
c.8816A>C (p.Lys2939Thr)
c.8762A>C (p.Lys2921Thr)
c.8552A>C (p.Lys2851Thr)
c.8198A>C (p.Lys2733Thr)
c.6095A>C (p.Lys2032Thr)
n.9045A>C
c.8681A>C (p.Lys2894Thr)
c.7877A>C (p.Lys2626Thr)
c.7682A>C (p.Lys2561Thr)
n.9094A>C
5g.37125333T>ACA359499187CPLANE1n.1868A>T
c.8869A>T (p.Lys2957Ter)
n.730A>T
c.8707A>T (p.Lys2903Ter)
c.5881A>T (n.5881A>T)
n.4050A>T
n.342-3549A>T
c.5905A>T (p.Lys1969Ter)
c.8866A>T (p.Lys2956Ter)
c.8758A>T (p.Lys2920Ter)
c.8740A>T (p.Lys2914Ter)
c.5512A>T (p.Lys1838Ter)
c.3442A>T (p.Lys1148Ter)
c.8815A>T (p.Lys2939Ter)
c.8761A>T (p.Lys2921Ter)
c.8551A>T (p.Lys2851Ter)
c.8197A>T (p.Lys2733Ter)
c.6094A>T (p.Lys2032Ter)
n.9044A>T
c.8680A>T (p.Lys2894Ter)
c.7876A>T (p.Lys2626Ter)
c.7681A>T (p.Lys2561Ter)
n.9093A>T
5g.37125333T>CCA359499189CPLANE1n.1868A>G
c.8869A>G (p.Lys2957Glu)
n.730A>G
c.8707A>G (p.Lys2903Glu)
c.5881A>G (n.5881A>G)
n.4050A>G
n.342-3549A>G
c.5905A>G (p.Lys1969Glu)
c.8866A>G (p.Lys2956Glu)
c.8758A>G (p.Lys2920Glu)
c.8740A>G (p.Lys2914Glu)
c.5512A>G (p.Lys1838Glu)
c.3442A>G (p.Lys1148Glu)
c.8815A>G (p.Lys2939Glu)
c.8761A>G (p.Lys2921Glu)
c.8551A>G (p.Lys2851Glu)
c.8197A>G (p.Lys2733Glu)
c.6094A>G (p.Lys2032Glu)
n.9044A>G
c.8680A>G (p.Lys2894Glu)
c.7876A>G (p.Lys2626Glu)
c.7681A>G (p.Lys2561Glu)
n.9093A>G
5g.37125333T>GCA359499194CPLANE1n.1868A>C
c.8869A>C (p.Lys2957Gln)
n.730A>C
c.8707A>C (p.Lys2903Gln)
c.5881A>C (n.5881A>C)
n.4050A>C
n.342-3549A>C
c.5905A>C (p.Lys1969Gln)
c.8866A>C (p.Lys2956Gln)
c.8758A>C (p.Lys2920Gln)
c.8740A>C (p.Lys2914Gln)
c.5512A>C (p.Lys1838Gln)
c.3442A>C (p.Lys1148Gln)
c.8815A>C (p.Lys2939Gln)
c.8761A>C (p.Lys2921Gln)
c.8551A>C (p.Lys2851Gln)
c.8197A>C (p.Lys2733Gln)
c.6094A>C (p.Lys2032Gln)
n.9044A>C
c.8680A>C (p.Lys2894Gln)
c.7876A>C (p.Lys2626Gln)
c.7681A>C (p.Lys2561Gln)
n.9093A>C
5g.37125335_37125337delCA2765912303CPLANE1n.1866_1868del
c.8867_8869del (p.Arg2956del)
n.728_730del
c.8705_8707del (p.Arg2902del)
c.5879_5881del (n.5879_5881del)
n.4048_4050del
n.342-3551_342-3549del
c.5903_5905del (p.Arg1968del)
c.8864_8866del (p.Arg2955del)
c.8756_8758del (p.Arg2919del)
c.8738_8740del (p.Arg2913del)
c.5510_5512del (p.Arg1837del)
c.3440_3442del (p.Arg1147del)
c.8813_8815del (p.Arg2938del)
c.8759_8761del (p.Arg2920del)
c.8549_8551del (p.Arg2850del)
c.8195_8197del (p.Arg2732del)
c.6092_6094del (p.Arg2031del)
n.9042_9044del
c.8678_8680del (p.Arg2893del)
c.7874_7876del (p.Arg2625del)
c.7679_7681del (p.Arg2560del)
n.9091_9093del
5g.37125334T>ACA359499203CPLANE1n.1867A>T
c.8868A>T (p.Arg2956Ser)
n.729A>T
c.8706A>T (p.Arg2902Ser)
c.5880A>T (n.5880A>T)
n.4049A>T
n.342-3550A>T
c.5904A>T (p.Arg1968Ser)
c.8865A>T (p.Arg2955Ser)
c.8757A>T (p.Arg2919Ser)
c.8739A>T (p.Arg2913Ser)
c.5511A>T (p.Arg1837Ser)
c.3441A>T (p.Arg1147Ser)
c.8814A>T (p.Arg2938Ser)
c.8760A>T (p.Arg2920Ser)
c.8550A>T (p.Arg2850Ser)
c.8196A>T (p.Arg2732Ser)
c.6093A>T (p.Arg2031Ser)
n.9043A>T
c.8679A>T (p.Arg2893Ser)
c.7875A>T (p.Arg2625Ser)
c.7680A>T (p.Arg2560Ser)
n.9092A>T
 dbSNP gnomAD v2 gnomAD v4
5g.37125334T>CCA443922031CPLANE1n.1867A>G
c.8868A>G (p.Arg2956=)
n.729A>G
c.8706A>G (p.Arg2902=)
c.5880A>G (n.5880A>G)
n.4049A>G
n.342-3550A>G
c.5904A>G (p.Arg1968=)
c.8865A>G (p.Arg2955=)
c.8757A>G (p.Arg2919=)
c.8739A>G (p.Arg2913=)
c.5511A>G (p.Arg1837=)
c.3441A>G (p.Arg1147=)
c.8814A>G (p.Arg2938=)
c.8760A>G (p.Arg2920=)
c.8550A>G (p.Arg2850=)
c.8196A>G (p.Arg2732=)
c.6093A>G (p.Arg2031=)
n.9043A>G
c.8679A>G (p.Arg2893=)
c.7875A>G (p.Arg2625=)
c.7680A>G (p.Arg2560=)
n.9092A>G
5g.37125334T>GCA359499213CPLANE1n.1867A>C
c.8868A>C (p.Arg2956Ser)
n.729A>C
c.8706A>C (p.Arg2902Ser)
c.5880A>C (n.5880A>C)
n.4049A>C
n.342-3550A>C
c.5904A>C (p.Arg1968Ser)
c.8865A>C (p.Arg2955Ser)
c.8757A>C (p.Arg2919Ser)
c.8739A>C (p.Arg2913Ser)
c.5511A>C (p.Arg1837Ser)
c.3441A>C (p.Arg1147Ser)
c.8814A>C (p.Arg2938Ser)
c.8760A>C (p.Arg2920Ser)
c.8550A>C (p.Arg2850Ser)
c.8196A>C (p.Arg2732Ser)
c.6093A>C (p.Arg2031Ser)
n.9043A>C
c.8679A>C (p.Arg2893Ser)
c.7875A>C (p.Arg2625Ser)
c.7680A>C (p.Arg2560Ser)
n.9092A>C
5g.37125334T=CA1539667660CPLANE1n.1867A=
c.8868A= (p.Arg2956=)
n.729A=
c.8706A= (p.Arg2902=)
c.5880A= (n.5880A=)
n.4049A=
n.342-3550A=
c.5904A= (p.Arg1968=)
c.8865A= (p.Arg2955=)
c.8757A= (p.Arg2919=)
c.8739A= (p.Arg2913=)
c.5511A= (p.Arg1837=)
c.3441A= (p.Arg1147=)
c.8814A= (p.Arg2938=)
c.8760A= (p.Arg2920=)
c.8550A= (p.Arg2850=)
c.8196A= (p.Arg2732=)
c.6093A= (p.Arg2031=)
n.9043A=
c.8679A= (p.Arg2893=)
c.7875A= (p.Arg2625=)
c.7680A= (p.Arg2560=)
n.9092A=

Number of alleles fetched